Database SH2D1Abase
Version 2.2
File sh2d1apub.txt
Date 16-Jun-2011
Curator Mauno Vihinen
Address Institute of Medical Technology
Address FI-33014 University of Tampere, Finland
Phone +358-3-3551 7735
Fax +358-3-3551 7710
Email Mauno.Vihinen@uta.fi
URL http://bioinf.uta.fi/SH2D1Abase/
FTP ftp://protein.uta.fi/pub/sh2d1apub.dat
IDR factfile http://bioinf.uta.fi/xml/idr/ff/FF73.xml
Gene SH2D1A
Disease X-linked lymphoproliferative syndrome (XLP)
OMIM 308240
GDB 120701
Sequence IDRefSeq:D0078; IDRefSeq:C0078; UniProt:O60880
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID M1I(1); standard; MUTATION;
Accession A0045
Original code A
Description Missense mutation in the exon 1
Date 12-Jan-2000 (Rel. 1, Created)
Date 03-Oct-2000 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10694488
RefAuthors Lappalainen, I., Giliani, S., Franceschini, R.,
RefAuthors Bonnefoy, J.Y., Duckett, C., Notarangelo, L.D., Vihinen, M.
RefTitle Structural basis for SH2D1A mutations in X-linked
RefTitle lymphoproliferative disease
RefLoc Biochem Biophys Res Commun 269:124-130 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39322
Feature /change: g -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078: 302
Feature /codon: atg -> att; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 1
Feature /change: M -> I
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Family history: had 4 male maternal relatives who
Comment -!-Family history: developed lymphoma or fatal infectious
Comment -!-Family history: mononucleosis
Comment -!-Symptoms: died of fulminant hepatitis following EBV
Comment -!-Symptoms: infection
//
ID #M1X21(1a); standard; MUTATION; SH2
Accession A0036
Description Frameshift deletion in the exon 1
Date 11-Jan-2000 (Rel. 1, Created)
Date 11-Jan-2000 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10556288
RefAuthors Brandau, O., Schuster, V., Weiss, M., Hellebrand, H.,
RefAuthors Fink, F.M., Kreczy, A., Friedrich, W., Strahm, B.,
RefAuthors Niemeyer, C., Belohradsky, B.H., Meindl, A.
RefTitle Epstein-barr virus-negative boys with non-hodgkin
RefTitle lymphoma are mutated in the SH2D1A gene, as are patients
RefTitle with X-linked lymphoproliferative disease (XLP)
RefLoc Human Molecular Genetics 8:2407-2413 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 39321..39501
Feature /change: -atggacgcag tggctgtgta tcatggcaaa atcagcaggg
Feature /change: aaaccggcga gaagctcctg cttgccactg ggctggatgg
Feature /change: cagctatttg ctgagggaca gcgagagcgt gccaggcgtg
Feature /change: tactgcctat gtgtgctgta tcacggttac atttatacat
Feature /change: accgagtgtc ccagacagaa a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 300..480
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 1..61
Feature /change: MDAVAVYHGK ISRETGEKLL LATGLDGSYF LRDSESVPGV
Feature /change: YCLCVLYHGY IYTYRVSQTE T
Feature /change: -> QVLGVLRQHL GYIKDISGKX
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Relative SH2D1A; A0037 brother
Comment -!-Symptoms: anemia, NHL lymphoma, im remission, age 15
//
ID #M1X21(1b); standard; MUTATION; SH2
Accession A0037
Description Frameshift deletion in the exon 1
Date 11-Jan-2000 (Rel. 1, Created)
Date 11-Jan-2000 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10556288
RefAuthors Brandau, O., Schuster, V., Weiss, M., Hellebrand, H.,
RefAuthors Fink, F.M., Kreczy, A., Friedrich, W., Strahm, B.,
RefAuthors Niemeyer, C., Belohradsky, B.H., Meindl, A.
RefTitle Epstein-barr virus-negative boys with non-hodgkin
RefTitle lymphoma are mutated in the SH2D1A gene, as are patients
RefTitle with X-linked lymphoproliferative disease (XLP)
RefLoc Human Molecular Genetics 8:2407-2413 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 39321..39501
Feature /change: -atggacgcag tggctgtgta tcatggcaaa atcagcaggg
Feature /change: aaaccggcga gaagctcctg cttgccactg ggctggatgg
Feature /change: cagctatttg ctgagggaca gcgagagcgt gccaggcgtg
Feature /change: tactgcctat gtgtgctgta tcacggttac atttatacat
Feature /change: accgagtgtc ccagacagaa a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 300..480
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 1..61
Feature /change: MDAVAVYHGK ISRETGEKLL LATGLDGSYF LRDSESVPGV
Feature /change: YCLCVLYHGY IYTYRVSQTE T
Feature /change: -> QVLGVLRQHL GYIKDISGKX
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Relative SH2D1A; A0036 brother
Comment -!-Symptoms: anemia, NHL lymphoma, im remission, age 10
//
ID Y7C(1); standard; MUTATION; SH2
Accession A0049
Description Missense mutation in the exon 1
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39340
Feature /change: a -> g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078: 319
Feature /codon: tat -> tgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 7
Feature /change: Y -> C
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Family history: 2 other affected males in the K046
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: aplastic anemia
//
ID H8D(1); standard; MUTATION; SH2
Accession A0088
Original code 9
Description Missense mutation in the exon 1
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11493483
RefAuthors Sumazaki, R., Kanegane, H., Osaki, M., Fukushima, T.,
RefAuthors Tsuchida, M., Matsukura, H., Shinozaki, K., Kimura, H.,
RefAuthors Matsui, A., Miyawaki, T.
RefTitle SH2D1A mutations in Japanese males with severe
RefTitle Epstain-Barr virus-associated illnesses
RefLoc Blood 98:1268-1270 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39342
Feature /change: c -> g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078: 321
Feature /codon: cat -> gat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 8
Feature /change: H -> D
Symptoms Classical XLP
Sex XY
Family history Inherited
Ethnic origin Japanese
Comment -!-Family history: one brother with
Comment -!-Family history: hypogammaglobulinemia
Comment -!-Clinical history: stable at 17 years old
Comment -!-Clinical history: under intravenous immunoglobulins
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: hypogammaglobulinemia
//
ID H8P(1); standard; MUTATION; SH2
Accession A0110
Systematic name g.39343A>C, c.23A>C, r.23a>c, p.His8Pro
Description A point mutation in the exon 1 leading to an amino acid
Description change in the SH2 domain
Date 02-Mar-2007 (Rel. 1, Created)
Date 02-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16328363
RefAuthors Alangari, A., Abobaker, A., Kanegane, H., Miyawaki, T.
RefTitle X-linked lymphoproliferative disease associated with
RefTitle hypogammaglobulinemia and growth-hormone deficiency.
RefLoc Eur J Pediatr:165-167 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39343
Feature /change: a -> c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 322
Feature /codon: cat -> cct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 8
Feature /change: H -> P
Feature /domain: SH2
Protein level Reduced
Diagnosis X-linked lymphoproliferative syndrome
Symptoms recurrent infections, growth failure,
Symptoms hypogammaglobulinemia, lymphoma, EBV infection
Age 7
Sex XY
Ethnic origin Saudi Arabia
IgA 0.00g/l
IgG 0.29g/l
IgM 0.13g/l
Comment Significantly low growth hormone levels. Patient underwent
Comment a bone-marrow transplant from an HLA-identical sister. Died
Comment of post-transplant complications a few months later at the
Comment age of 7. Relatives: Parents distant relatives. Three
Comment sisters and four brothers all healthy.
//
ID G16D(1a); standard; MUTATION; SH2
Accession A0111
Systematic name g.39367G>A, c.47G>A, r.47g>a, p.Gly16Asp
Description A point mutation in the exon 1 leading to an amino acid
Description change in the SH2 domain
Date 02-Mar-2007 (Rel. 1, Created)
Date 02-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15841490
RefAuthors Erdös, M., Uzvolgyi, E., Nemes, Z., Torok, O., Rakoczi,
RefAuthors E., Went-Sumegi, N., Sumegi, J., Marodi, L.
RefTitle Characterization of a new disease-causing mutation of
RefTitle SH2D1A in a family with X-linked lymphoproliferative
RefTitle disease.
RefLoc Hum Mutat:506 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39367
Feature /change: g -> a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 346
Feature /codon: ggc -> gac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 16
Feature /change: G -> D
Feature /domain: SH2
Diagnosis X-linked lymphoproliferative syndrome
Symptoms pharyngitis, hepatosplenomegaly, maculopapular exanthemas,
Symptoms generalized lymphadenopathy, hepatic failure, respiratory
Symptoms arrest, EBV infection
Age <1
Sex XY
Ethnic origin Hungary
Family history Inherited
Relative SH2D1Abase; A0112 maternal uncle
Comment Mutant protein half-life was comparable to the WT protein.
Comment The mutated protein was not able to associate with SLAM or
Comment 2B4. Patient died at the age of 8 months.
//
ID G16D(1b); standard; MUTATION; SH2
Accession A0112
Systematic name g.39367G>A, c.47G>A, r.47g>a, p.Gly16Asp
Description A point mutation in the exon 1 leading to an amino acid
Description change in the SH2 domain
Date 02-Mar-2007 (Rel. 1, Created)
Date 02-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15841490
RefAuthors Erdös, M., Uzvolgyi, E., Nemes, Z., Torok, O., Rakoczi,
RefAuthors E., Went-Sumegi, N., Sumegi, J., Marodi, L.
RefTitle Characterization of a new disease-causing mutation of
RefTitle SH2D1A in a family with X-linked lymphoproliferative
RefTitle disease.
RefLoc Hum Mutat:506 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39367
Feature /change: g -> a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 346
Feature /codon: ggc -> gac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 16
Feature /change: G -> D
Feature /domain: SH2
Diagnosis X-linked lymphoproliferative syndrome
Symptoms pharyngitis, hepatosplenomegaly, lymphadenopathy,
Symptoms respiratory distress, jaundice, lethargy, hepatic failure,
Symptoms cerebral edema, cerebellar herniation, EBV infection
Sex XY
Ethnic origin Hungary
Family history Inherited
Relative SH2D1Abase; A0111 nephew
Comment Mutation analysis in the patient was not applicable, but
Comment based on the clinical phenotype, the histological findings
Comment and the pedigree it is proposed that the patient had the
Comment same mutation as his nephew did. The patient died at the
Comment age of 9.
//
ID G27S(1); standard; MUTATION; SH2
Accession A0089
Original code 8
Description Missense mutation in the exon 1
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11493483
RefAuthors Sumazaki, R., Kanegane, H., Osaki, M., Fukushima, T.,
RefAuthors Tsuchida, M., Matsukura, H., Shinozaki, K., Kimura, H.,
RefAuthors Matsui, A., Miyawaki, T.
RefTitle SH2D1A mutations in Japanese males with severe
RefTitle Epstain-Barr virus-associated illnesses
RefLoc Blood 98:1268-1270 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39399
Feature /change: g -> a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078: 378
Feature /codon: ggc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 27
Feature /change: G -> S
Symptoms Classical XLP
Family history Sporadic
Ethnic origin Japanese
Comment -!-Clinical history: died after 1 month
Comment -!-Symptoms: fulminant infectious mononucleosis
//
ID S28R(1); standard; MUTATION; SH2
Accession A0050
Description Missense mutation in the exon 1
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39404
Feature /change: c -> g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078: 383
Feature /codon: agc -> agg; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 28
Feature /change: S -> R
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Family history: 5 other affected males in the K068
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: lymphoproliferative disorders,
Comment -!-Symptoms: dysgammaglobulinemia
//
ID L31P(1); standard; MUTATION; SH2
Accession A0051
Description Missense mutation in the exon 1
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39412
Feature /change: t -> c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078: 391
Feature /codon: ctg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 31
Feature /change: L -> P
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Family history: 2 other affected males in the K089
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: malignant lymphoma
//
ID R32T(1); standard; MUTATION; SH2
Accession A0013
Original code 4
Description Missense mutation in the exon 1 leading to amino acid
Description change in SH2 domain
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9771704
RefAuthors Coffey, A.J., Brooksbank, R.A., Brandau, O., Oohashi, T.,
RefAuthors Howell, G.R., Bye, J.M., Cahn, A.P., Durham, J., Heath,
RefAuthors P., Wray, P., Pavitt, R., Wilkinson, J., Leversha, M.,
RefAuthors Huckle, E., Shaw-Smith, C.J., Dunham, A., Rhodes, S.,
RefAuthors Schuster, V., Porta, G., Yin, L., Serafini, P., Sylla, B.,
RefAuthors Zollo, M., Franco, B., Bolino, A., Seri, A., Lanyi, A.,
RefAuthors Davis, J.R., Webster, D., Harris, A., Lenoir, G., de St
RefAuthors Basile, G., Jones, A., Behloradsky, B.H., Achhatz, H.,
RefAuthors Murgen, J., Fassler, R., Sumegi, J., Romeo, G., Vaudin,
RefAuthors M., Ross, M.T., Meindl, A., Bentley, D.R.
RefTitle Host response to EBV infection in X-linked
RefTitle lymphoproliferative disease results from mutations in an
RefTitle SH2-domain encoding gene
RefLoc Nature Genetics 20:129-135 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39415
Feature /change: g -> c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:3153107; HSDSHP: 394
Feature /codon: agg -> acg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 32
Feature /change: R -> T
Feature /domain: SH2
Symptoms Classical XLP
Sex XY
Family history De novo
//
ID D33Y(1); standard; MUTATION; SH2
Accession A0090
Original code 7
Description Missense mutation in the exon 1
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11493483
RefAuthors Sumazaki, R., Kanegane, H., Osaki, M., Fukushima, T.,
RefAuthors Tsuchida, M., Matsukura, H., Shinozaki, K., Kimura, H.,
RefAuthors Matsui, A., Miyawaki, T.
RefTitle SH2D1A mutations in Japanese males with severe
RefTitle Epstain-Barr virus-associated illnesses
RefLoc Blood 98:1268-1270 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39417
Feature /change: g -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078: 396
Feature /codon: gac -> tac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 33
Feature /change: D -> Y
Symptoms Classical XLP
Family history Inherited
Ethnic origin Japanese
Comment -!-Family history: one brother with lymphoma and
Comment -!-Family history: hypogammaglobulinemia
Comment -!-Family history: carriers mother and sister; ref [1]
Comment -!-Clinical history: in remission after chemotherapy
Comment -!-Clinical history: followed by peripheral blood
Comment -!-Clinical history: stem cell transplatation
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: hypogammaglobulinemia since 4 years old
//
ID S34G(1a); standard; MUTATION; SH2
Accession A0120
Systematic name g.39420A>G, c.100A>G, r.100a>g, p.Ser34Gly
Description A point mutation in the exon 1 leading to an amino acid
Description change in the SH2 domain
Date 05-Mar-2007 (Rel. 1, Created)
Date 05-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12356686
RefAuthors Shinozaki, K., Kanegane, H., Matsukura, H., Sumazaki, R.,
RefAuthors Tsuchida, M., Makita, M., Kimoto, Y., Kanai, R., Tsumura,
RefAuthors K., Kondoh, T., Moriuchi, H., Miyawaki, T.
RefTitle Activation-dependent T cell expression of the X-linked
RefTitle lymphoproliferative disease gene product SLAM-associated
RefTitle protein and its assessment for patient detection.
RefLoc Int Immunol:1215-1223 (2002)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39420
Feature /change: a -> g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 399
Feature /codon: agc -> ggc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 34
Feature /change: S -> G
Feature /domain: SH2
Protein level Reduced
Diagnosis X-linked lymphoproliferative syndrome
Symptoms recurrent infections, hypogammaglobulinemia
Age 12
Sex XY
Ethnic origin Japan
Family history Inherited
Relative SH2D1Abase; A0121 brother
IgA 12mg/dl
IgG 2mg/dl
IgM 55mg/dl
Comment Patient died of malignant lymphoma and pancytopenia
//
ID S34G(1b); standard; MUTATION; SH2
Accession A0121
Systematic name g.39420A>G, c.100A>G, r.100a>g, p.Ser34Gly
Description A point mutation in the exon 1 leading to an amino acid
Description change in the SH2 domain
Date 05-Mar-2007 (Rel. 1, Created)
Date 05-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12356686
RefAuthors Shinozaki, K., Kanegane, H., Matsukura, H., Sumazaki, R.,
RefAuthors Tsuchida, M., Makita, M., Kimoto, Y., Kanai, R., Tsumura,
RefAuthors K., Kondoh, T., Moriuchi, H., Miyawaki, T.
RefTitle Activation-dependent T cell expression of the X-linked
RefTitle lymphoproliferative disease gene product SLAM-associated
RefTitle protein and its assessment for patient detection.
RefLoc Int Immunol:1215-1223 (2002)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39420
Feature /change: a -> g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 399
Feature /codon: agc -> ggc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 34
Feature /change: S -> G
Feature /domain: SH2
Protein level Reduced
Diagnosis X-linked lymphoproliferative syndrome
Age 10
Sex XY
Ethnic origin Japan
Family history Inherited
Relative SH2D1Abase; A0120 brother
IgA 202mg/dl
IgG 504mg/dl
IgM 90mg/dl
//
ID S34R(1); standard; MUTATION; SH2
Accession A0122
Systematic name g.39422C>A, c.102C>A, r.102c>a, p.Ser34Arg
Original code P2
Description A point mutation in the exon 1 leading to an amino acid
Description change in the SH2 domain
Date 05-Mar-2007 (Rel. 1, Created)
Date 05-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15632210
RefAuthors Tabata, Y., Villanueva, J., Lee, S. M., Zhang, K.,
RefAuthors Kanegane, H., Miyawaki, T., Sumegi, J., Filipovich, A. H.
RefTitle Rapid detection of intracellular SH2D1A protein in
RefTitle cytotoxic lymphocytes from patients with X-linked
RefTitle lymphoproliferative disease and their family members.
RefLoc Blood:3066-3071 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39422
Feature /change: c -> a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 401
Feature /codon: agc -> aga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 34
Feature /change: S -> R
Feature /domain: SH2
Protein level N.D.
Diagnosis X-linked lymphoproliferative syndrome
Symptoms Recurrent B cell lymphoma
Age 13
//
ID G39G(1); standard; MUTATION; SH2
Accession A0096
Original code 6
Description Point mutation in the exon 1 creating cryptic
Description splice site and leading to 22 bp deletion from exon 1,
Description frameshift and stop codon in SH2 domain
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11493483
RefAuthors Sumazaki, R., Kanegane, H., Osaki, M., Fukushima, T.,
RefAuthors Tsuchida, M., Matsukura, H., Shinozaki, K., Kimura, H.,
RefAuthors Matsui, A., Miyawaki, T.
RefTitle SH2D1A mutations in Japanese males with severe
RefTitle Epstain-Barr virus-associated illnesses
RefLoc Blood 98:1268-1270 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 39437
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature /note: cDNA location 416
Feature /note: codon change ggc -> ggt; 3
Feature /note: create an aberrant donor splice site
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: loss of exon sequence; frameshift
Feature /note: deletion of 22 bp in exon 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Protein struct Splice defect
Symptoms Classical XLP
Family history Inherited
Ethnic origin Japanese
Comment -!-Family history: one brother with
Comment -!-Family history: EBV-negative lymphoma
Comment -!-Family history: carrier mother; ref [1]
Comment -!-Clinical history: died after 21 days
Comment -!-Symptoms: fulminant infectious mononucleosis,
//
ID C42W(1); standard; MUTATION; SH2
Accession A0052
Description Missense mutation in the exon 1
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39446
Feature /change: c -> g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078: 425
Feature /codon: tgc -> tgg; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 42
Feature /change: C -> W
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Family history: 4 other affected males in the K037
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: dysgammaglobulinemia
//
ID #L46X49(1); standard; MUTATION; SH2
Accession A0053
Description Frameshift deletion in the exon 2
Date 10-Jul-2001 (Rel. 1, Created)
Date 10-Jul-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 58439..58688
Feature /change: -gtatcacggt tacatttata cataccgagt gtcccagaca
Feature /change: gaaacaggtt cttggagtgc tgagacagca cctggggtac
Feature /change: ataaaagata tttccggaaa ataaaaaatc tcatttcagc
Feature /change: atttcagaag ccagatcaag gcattgtaat acctctgcag
Feature /change: tatccagttg agaagaagtc ctcagctaga agtacacaag
Feature /change: gtactacagg gataagagaa gatcctgatg tctgcctgaa
Feature /change: agccccatga
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 437..686
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 46..129
Feature /change: LYHGYIYTYR VSQTETGSWS AETAPGVHKR YFRKIKNLIS
Feature /change: AFQKPDQGIV IPLQYPVEKK SSARSTQGTT GIREDPDVCL
Feature /change: KAPX
Feature /change: -> LEKX
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Comment -!-Family history: 4 other affected males in the K005
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: lymphoproliferative disorders
//
ID #L46X49(2); standard; MUTATION; SH2
Accession A0054
Description Frameshift deletion in the exon 2
Date 10-Jul-2001 (Rel. 1, Created)
Date 10-Jul-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 58439..58688
Feature /change: -gtatcacggt tacatttata cataccgagt gtcccagaca
Feature /change: gaaacaggtt cttggagtgc tgagacagca cctggggtac
Feature /change: ataaaagata tttccggaaa ataaaaaatc tcatttcagc
Feature /change: atttcagaag ccagatcaag gcattgtaat acctctgcag
Feature /change: tatccagttg agaagaagtc ctcagctaga agtacacaag
Feature /change: gtactacagg gataagagaa gatcctgatg tctgcctgaa
Feature /change: agccccatga
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 437..686
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 46..129
Feature /change: LYHGYIYTYR VSQTETGSWS AETAPGVHKR YFRKIKNLIS
Feature /change: AFQKPDQGIV IPLQYPVEKK SSARSTQGTT GIREDPDVCL
Feature /change: KAPX
Feature /change: -> LEKX
Symptoms Classical XLP
Sex XY
Protein struct Large deletion
Family history Inherited
Comment -!-Family history: an other affected male in the K083
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis
//
ID #L46X59(1); standard; MUTATION; SH2
Accession A0038
Original code XLP-M
Description Frameshift deletion in the exon 2
Date 12-Jan-2000 (Rel. 1, Created)
Date 12-Jan-2000 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10598819
RefAuthors Yin, L., Ferrand, V., Lavou�, M-F., Hayoz, D., Philipe, N.,
RefAuthors Souillet, G., Seri, M., Giacchino, R., Castagnola, E.,
RefAuthors Hodgson, S., Sylla B.S., Romeo, G.
RefTitle SH2D1A mutation analysis for diagnosis of XLP in typical
RefTitle and atypical patients
RefLoc Human Genetics 105:501-505 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 58439..58502
Feature /change: -gtatcacggt tacatttata cataccgagt gtcccagaca
Feature /change: gaaacaggtt cttggagtgc tgag
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 437..500
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 46..67
Feature /change: LYHGYIYTYR VSQTETGSWS AE -> LQHLGYIKDI SGKX
Symptoms Classical XLP
Sex XY
Family history Inherited
//
ID #L46X59(2); standard; MUTATION;
Accession A0055
Description Frameshift deletion in the exon 2
Date 10-Jul-2001 (Rel. 1, Created)
Date 10-Jul-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 58439..58502
Feature /change: -gtatcacggt tacatttata cataccgagt gtcccagaca
Feature /change: gaaacaggtt cttggagtgc tgag
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 437..500
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 46..67
Feature /change: LYHGYIYTYR VSQTETGSWS AE -> LQHLGYIKDI SGKX
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Comment -!-Family history: 10 other affected males in the K001
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: lymphoproliferative disorders,
Comment -!-Symptoms: dysgammaglobulinemia
//
ID #L46X59(3); standard; MUTATION; SH2
Accession A0056
Description Frameshift deletion in the exon 2
Date 10-Jul-2001 (Rel. 1, Created)
Date 10-Jul-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 58439..58502
Feature /change: -gtatcacggt tacatttata cataccgagt gtcccagaca
Feature /change: gaaacaggtt cttggagtgc tgag
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 437..500
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 46..67
Feature /change: LYHGYIYTYR VSQTETGSWS AE -> LQHLGYIKDI SGKX
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Comment -!-Family history: 2 other affected males in the K032
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: dysgammaglobulinemia
//
ID #Y47X51(1); standard; MUTATION; SH2
Accession A0057
Description Frameshift deletion in the exon 2
Date 10-Jul-2001 (Rel. 1, Created)
Date 10-Jul-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 58441..58487
Feature /change: -atcacggtta catttataca taccgagtgt cccagacaga
Feature /change: aacaggt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 439..485
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 47..62
Feature /change: YHGYIYTYRV SQTETG -> FLECX
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Comment -!-Family history: 2 other affected males in the K061
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: lymphoproliferative disorders
//
ID G49V(1); standard; MUTATION; SH2
Accession A0091
Original code 10
Description Missense mutation in the exon 2
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11493483
RefAuthors Sumazaki, R., Kanegane, H., Osaki, M., Fukushima, T.,
RefAuthors Tsuchida, M., Matsukura, H., Shinozaki, K., Kimura, H.,
RefAuthors Matsui, A., Miyawaki, T.
RefTitle SH2D1A mutations in Japanese males with severe
RefTitle Epstain-Barr virus-associated illnesses
RefLoc Blood 98:1268-1270 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58447
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078: 445
Feature /codon: ggt -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 49
Feature /change: G -> V
Symptoms Classical XLP
Family history Sporadic
Ethnic origin Japanese
Comment -!-Family history: carrier mother; ref [1]
Comment -!-Clinical history: in remission after chemotherapy
Comment -!-Clinical history: umbilical stem cell transplantation
Comment -!-Symptoms: EBV-associated lymphoma
//
ID @G49X67(1a); standard; MUTATION; SH2
Accession A0113
Systematic name g.58447dupG, c.146dupG, r.146dupg, p.Tyr50fsX18
Description A frame shift duplication mutation in the exon 2 leading to
Description a premature stop codon in the SH2 domain
Date 05-Mar-2007 (Rel. 1, Created)
Date 05-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17058098
RefAuthors Hugle, B., Astigarraga, I., Henter, J. I., Porwit-
RefAuthors Macdonald, A., Meindl, A., Schuster, V.
RefTitle Simultaneous manifestation of fulminant infectious
RefTitle mononucleosis with haemophagocytic syndrome and B-cell
RefTitle lymphoma in X-linked lymphoproliferative disease.
RefLoc Eur J Pediatr (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0078: 58448
Feature /change: +g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 446
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: SH21A_HUMAN: 49
Feature /change: G -> GLHLYIPSVP DRNRFLECX
Feature /domain: SH2
Diagnosis X-linked lymphoproliferative syndrome
Symptoms signs of severe infectious mononucleosis, EBV infection,
Symptoms hepatic failure, coagulopathy, pancytopenia
Sex XY
Ethnic origin Spain
Family history Inherited
Relative SH2D1Abase; A0114 half-brother
IgA 7.1
IgG 20.93
IgM 7.17
Comment The patient died at the age of 4 of severe intracranial
Comment hypertension. Genetic analysis was not performed, but the
Comment diagnosis of XLP in the family was confirmed by mutation
Comment screening for SH2D1A in the mother and the maternal aunt of
Comment the patient, who were identified as carriers of the
Comment mutation.
//
ID @G49X67(1b); standard; MUTATION; SH2
Accession A0114
Systematic name g.58447dupG, c.146dupG, r.146dupg, p.Tyr50fsX18
Description A frame shift duplication mutation in the exon 2 leading to
Description a premature stop codon in the SH2 domain
Date 05-Mar-2007 (Rel. 1, Created)
Date 05-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17058098
RefAuthors Hugle, B., Astigarraga, I., Henter, J. I., Porwit-
RefAuthors Macdonald, A., Meindl, A., Schuster, V.
RefTitle Simultaneous manifestation of fulminant infectious
RefTitle mononucleosis with haemophagocytic syndrome and B-cell
RefTitle lymphoma in X-linked lymphoproliferative disease.
RefLoc Eur J Pediatr (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0078: 58448
Feature /change: +g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 446
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: SH21A_HUMAN: 49
Feature /change: G -> GLHLYIPSVP DRNRFLECX
Feature /domain: SH2
Diagnosis X-linked lymphoproliferative syndrome
Sex XY
Ethnic origin Spain
Family history Inherited
Relative SH2D1Abase; A0113 half-brother
Comment The patient died of meningitis and pulmonary bleeding.
Comment Genetic analysis was not performed, but the diagnosis of
Comment XLP in the family was confirmed by mutation screening for
Comment SH2D1A in the mother and the maternal aunt of the patient,
Comment who were identified as carriers of the mutation.
//
ID #Y50X56(1a); standard; MUTATION; SH2
Accession A0020
Description Deletion of 53 nucleotides in the exon 2 and 106
Description nucleotide deletion in the 5' intron sequence following
Description exon 2
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9771704
RefAuthors Coffey, A.J., Brooksbank, R.A., Brandau, O., Oohashi, T.,
RefAuthors Howell, G.R., Bye, J.M., Cahn, A.P., Durham, J., Heath,
RefAuthors P., Wray, P., Pavitt, R., Wilkinson, J., Leversha, M.,
RefAuthors Huckle, E., Shaw-Smith, C.J., Dunham, A., Rhodes, S.,
RefAuthors Schuster, V., Porta, G., Yin, L., Serafini, P., Sylla, B.,
RefAuthors Zollo, M., Franco, B., Bolino, A., Seri, A., Lanyi, A.,
RefAuthors Davis, J.R., Webster, D., Harris, A., Lenoir, G., de St
RefAuthors Basile, G., Jones, A., Behloradsky, B.H., Achhatz, H.,
RefAuthors Murgen, J., Fassler, R., Sumegi, J., Romeo, G., Vaudin,
RefAuthors M., Ross, M.T., Meindl, A., Bentley, D.R.
RefTitle Host response to EBV infection in X-linked
RefTitle lymphoproliferative disease results from mutations in an
RefTitle SH2-domain encoding gene
RefLoc Nature Genetics 20:129-135 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0078: 58450..58608
Feature /change: -acatttatac ataccgagtg tcccagacag aaacaggttc
Feature /change: ttggagtgct gaggtatagt tgtatttatt tttgcttctg
Feature /change: ggggtgtcaa ggaggtattt gaaatttagg ctggttttat
Feature /change: aaaagagcaa attatacatt attaagtatt cataaggtt
Feature /genomic_region: exon; 2
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 448..500
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 50..67
Feature /change: YIYTYRVSQT ETGSWSAE -> YSTWGTX
Symptoms Classical XLP
Protein struct Large deletion
Symptoms classical XLP
Sex XY
Family history Inherited
Relative SH2D1A; A0021 brother
//
ID #Y50X56(1b); standard; MUTATION; SH2
Accession A0021
Description Deletion of 53 nucleotides in the exon 2 and 106
Description nucleotide deletion in the 5' intron sequence following
Description exon 2
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9771704
RefAuthors Coffey, A.J., Brooksbank, R.A., Brandau, O., Oohashi, T.,
RefAuthors Howell, G.R., Bye, J.M., Cahn, A.P., Durham, J., Heath,
RefAuthors P., Wray, P., Pavitt, R., Wilkinson, J., Leversha, M.,
RefAuthors Huckle, E., Shaw-Smith, C.J., Dunham, A., Rhodes, S.,
RefAuthors Schuster, V., Porta, G., Yin, L., Serafini, P., Sylla, B.,
RefAuthors Zollo, M., Franco, B., Bolino, A., Seri, A., Lanyi, A.,
RefAuthors Davis, J.R., Webster, D., Harris, A., Lenoir, G., de St
RefAuthors Basile, G., Jones, A., Behloradsky, B.H., Achhatz, H.,
RefAuthors Murgen, J., Fassler, R., Sumegi, J., Romeo, G., Vaudin,
RefAuthors M., Ross, M.T., Meindl, A., Bentley, D.R.
RefTitle Host response to EBV infection in X-linked
RefTitle lymphoproliferative disease results from mutations in an
RefTitle SH2-domain encoding gene
RefLoc Nature Genetics 20:129-135 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0078: 58450..58608
Feature /change: -acatttatac ataccgagtg tcccagacag aaacaggttc
Feature /change: ttggagtgct gaggtatagt tgtatttatt tttgcttctg
Feature /change: ggggtgtcaa ggaggtattt gaaatttagg ctggttttat
Feature /change: aaaagagcaa attatacatt attaagtatt cataaggtt
Feature /genomic_region: exon; 2
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 448..500
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 50..67
Feature /change: YIYTYRVSQT ETGSWSAE -> YSTWGTX
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Relative SH2D1A; A0020 brother
//
ID T53R(1); standard; MUTATION; SH2
Accession A0058
Description Missense mutation in the exon 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58459
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078: 457
Feature /codon: aca -> aga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 53
Feature /change: T -> R
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Family history: 13 other affected males in the K053
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: lymphoproliferative disorders,
Comment -!-Symptoms: dysgammaglobulinemia
Comment -!-Coded as T53I in the ref [1] by mistake
//
ID Y54C(1); standard; MUTATION; SH2
Accession A0059
Description Missense mutation in the exon 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58462
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078: 460
Feature /codon: tac -> tgc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 54
Feature /change: Y -> C
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Family history: an other affected male in the K038
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: lymphoproliferative disorders,
Comment -!-Symptoms: fulminant infectious mononucleosis
//
ID Y54C(2); standard; MUTATION; SH2
Accession A0105
Systematic name g.58462A>G, c.161A>G, r.161a>g, p.Tyr54Cys
Description A point mutation in the exon 2 leading to an amino acid
Description change in the SH2 domain
Date 20-Feb-2007 (Rel. 1, Created)
Date 20-Feb-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16720617
RefAuthors Hare, N. J., Ma, C. S., Alvaro, F., Nichols, K. E.,
RefAuthors Tangye, S. G.
RefTitle Missense mutations in SH2D1A identified in patients with X-
RefTitle linked lymphoproliferative disease differentially affect
RefTitle the expression and function of SAP.
RefLoc Int Immunol:1055-1065 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58462
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 460
Feature /codon: tac -> tgc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 54
Feature /change: Y -> C
Feature /domain: SH2
Protein level Much reduced
Protein struct Reduced half-life
Diagnosis X-linked lymphoproliferative syndrome
Comment The mutated protein was not able to associate with SLAM,
Comment 2B4, or CD84
//
ID R55L(1); standard; MUTATION; SH2
Accession A0083
Description Missense mutation in the exon 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11133747
RefAuthors Dutz, J. P., Benoit, L., Wang, X., Demetrick, D. J.,
RefAuthors Junker, A., de Sa, D. and Tan, R.
RefTitle Lymphocytic vasculitis in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 97: 95-100 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58465
Feature /change: g -> t
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078: 463
Feature /codon: cga -> cta; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> L
Symptoms Classical XLP
Date of birth 1985
Sex XY
Family history Inherited
Age at death 12; Cause: chronic systemic vasculitis and XLP
Comment -!-Family history: an affected male cousin, four female
Comment -!-Family history: carriers; ref [1]
Comment -!-Symptoms: virus associated hemophagocytic syndrome,
Comment -!-Symptoms: later chorioretinitis, bronchiectasis,
Comment -!-Symptoms: hypogammaglobulinemia and fatal respiratory failure
//
ID R55X(1); standard; MUTATION; SH2
Accession A0004
Original code D; 1; XLP-D
Description Point mutation in the exon 2 leading to stop codon in SH2
Description domain
Date 10-Jun-1999 (Rel. 1, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9811875
RefAuthors Nichols, K.E., Harkin, D.P., Levitz, S., Krainer, M.,
RefAuthors Kolquist, K.A., Genovese, C., Bernard, A., Ferguson, M.,
RefAuthors Zuo, L., Snyder, E., Buckler, A.J., Wise, C., Ashley, J.,
RefAuthors Lovett, M., Valentine, M.B., Look, A.T., Gerald, W.,
RefAuthors Housman, D.E., Haber, D.A.
RefTitle Inactivating mutations in an SH2 domain-encoding gene in
RefTitle X-linked lymphoproliferative syndrome
RefLoc Proc. Natl. Acad. Sci. USA 95:13765-13770 (1998)
RefNumber [2]
RefCrossRef PUBMED; 9771704
RefAuthors Coffey, A.J., Brooksbank, R.A., Brandau, O., Oohashi, T.,
RefAuthors Howell, G.R., Bye, J.M., Cahn, A.P., Durham, J., Heath,
RefAuthors P., Wray, P., Pavitt, R., Wilkinson, J., Leversha, M.,
RefAuthors Huckle, E., Shaw-Smith, C.J., Dunham, A., Rhodes, S.,
RefAuthors Schuster, V., Porta, G., Yin, L., Serafini, P., Sylla, B.,
RefAuthors Zollo, M., Franco, B., Bolino, A., Seri, A., Lanyi, A.,
RefAuthors Davis, J.R., Webster, D., Harris, A., Lenoir, G., de St
RefAuthors Basile, G., Jones, A., Behloradsky, B.H., Achhatz, H.,
RefAuthors Murgen, J., Fassler, R., Sumegi, J., Romeo, G., Vaudin,
RefAuthors M., Ross, M.T., Meindl, A., Bentley, D.R.
RefTitle Host response to EBV infection in X-linked
RefTitle lymphoproliferative disease results from mutations in an
RefTitle SH2-domain encoding gene
RefLoc Nature Genetics 20:129-135 (1998)
RefNumber [3]
RefCrossRef PUBMED; 10598819
RefAuthors Yin, L., Ferrand, V., Lavou�, M-F., Hayoz, D., Philipe, N.,
RefAuthors Souillet, G., Seri, M., Giacchino, R., Castagnola, E.,
RefAuthors Hodgson, S., Sylla B.S., Romeo, G.
RefTitle SH2D1A mutation analysis for diagnosis of XLP in typical
RefTitle and atypical patients
RefLoc Human Genetics 105:501-505 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AL023657; GI:3153107; HSDSHP: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Feature /domain: SH2
Protein struct Premature stop
Symptoms Classical XLP
Sex XY
Family history De novo
//
ID R55X(3); standard; MUTATION; SH2
Accession A0039
Original code XLP-H
Description Nonsense mutation in the exon 2
Date 11-Jan-2000 (Rel. 1, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10598819
RefAuthors Yin, L., Ferrand, V., Lavou�, M-F., Hayoz, D., Philipe, N.,
RefAuthors Souillet, G., Seri, M., Giacchino, R., Castagnola, E.,
RefAuthors Hodgson, S., Sylla B.S., Romeo, G.
RefTitle SH2D1A mutation analysis for diagnosis of XLP in typical
RefTitle and atypical patients
RefLoc Human Genetics 105:501-505 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Symptoms Classical XLP
Sex XY
//
ID R55X(4); standard; MUTATION; SH2
Accession A0040
Original code IARC694
Description Nonsense mutation in the exon 2
Date 11-Jan-2000 (Rel. 1, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10598819
RefAuthors Yin, L., Ferrand, V., Lavou�, M-F., Hayoz, D., Philipe, N.,
RefAuthors Souillet, G., Seri, M., Giacchino, R., Castagnola, E.,
RefAuthors Hodgson, S., Sylla B.S., Romeo, G.
RefTitle SH2D1A mutation analysis for diagnosis of XLP in typical
RefTitle and atypical patients
RefLoc Human Genetics 105:501-505 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Symptoms Classical XLP
Sex XY
//
ID R55X(5); standard; MUTATION; SH2
Accession A0046
Original code C
Description Nonsense mutation in the exon 2
Date 12-Jan-2000 (Rel. 1, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10694488
RefAuthors Lappalainen, I., Giliani, S., Franceschini, R.,
RefAuthors Bonnefoy, J.Y., Duckett, C., Notarangelo, L.D., Vihinen, M.
RefTitle Structural basis for SH2D1A mutations in X-linked
RefTitle lymphoproliferative disease
RefLoc Biochem Biophys Res Commun 269:124-130 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Family history: elder brother died at 16 months of
Comment -!-Family history: non-Hodgkin lymphoma
Comment -!-Symptoms: died at 4 years of fatal hepatitis following
Comment -!-Symptoms: EBV-infection
//
ID R55X(6); standard; MUTATION; SH2
Accession A0047
Original code D
Description Nonsense mutation in the exon 2
Date 12-Jan-2000 (Rel. 1, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10694488
RefAuthors Lappalainen, I., Giliani, S., Franceschini, R.,
RefAuthors Bonnefoy, J.Y., Duckett, C., Notarangelo, L.D., Vihinen, M.
RefTitle Structural basis for SH2D1A mutations in X-linked
RefTitle lymphoproliferative disease
RefLoc Biochem Biophys Res Commun 269:124-130 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Symptoms Classical XLP
Sex XY
Age 56
Family history Inherited
Comment -!-Family history: nephew who developed EBV-related
Comment -!-Family history: non-Hodgkin lymphoma at 3 years
Comment -!-Symptoms: hypogammaglobulinemia
//
ID R55X(7); standard; MUTATION; SH2
Accession A0060
Description Nonsense mutation in the exon 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Symptoms Classical XLP
Protein struct Premature stop
Sex XY
Family history Inherited
Comment -!-Family history: 15 other affected males in the K003
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: lymphoproliferative disorders
//
ID R55X(8); standard; MUTATION; SH2
Accession A0061
Description Nonsense mutation in the exon 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Symptoms Classical XLP
Protein struct Premature stop
Sex XY
Family history Inherited
Comment -!-Family history: 5 other affected males in the K004
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: dysgammaglobulinemia
//
ID R55X(9); standard; MUTATION; SH2
Accession A0062
Description Nonsense mutation in the exon 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Symptoms Classical XLP
Protein struct Premature stop
Sex XY
Family history Inherited
Comment -!-Family history: an affected male in the K019
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: lymphoproliferative disorders
//
ID R55X(10); standard; MUTATION; SH2
Accession A0063
Description Nonsense mutation in the exon 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Symptoms Classical XLP
Protein struct Premature stop
Sex XY
Family history Inherited
Comment -!-Family history: an affected male in the K030
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: lymphoproliferative disorders
//
ID R55X(11); standard; MUTATION; SH2
Accession A0064
Description Nonsense mutation in the exon 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Symptoms Classical XLP
Protein struct Premature stop
Sex XY
Family history Inherited
Comment -!-Family history: an affected male in the K069
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: lymphoproliferative disorders
//
ID R55X(12); standard; MUTATION; SH2
Accession A0065
Description Nonsense mutation in the exon 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Symptoms Classical XLP
Protein struct Premature stop
Sex XY
Family history Inherited
Comment -!-Family history: 2 other affected males in the K081
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: lymphoproliferative disorders
//
ID R55X(13); standard; MUTATION; SH2
Accession A0066
Description Nonsense mutation in the exon 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Symptoms Classical XLP
Protein struct Premature stop
Sex XY
Family history Inherited
Comment -!-Family history: 7 other affected males in the K006
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis
Comment -!-Symptoms: lymphoproliferative disorders
Comment -!-Symptoms: coded in the ref [1] as Q58X thought the
Comment -!-Symptoms: mutation at the nucleic acid level equals
Comment -!-Symptoms: to R55X
//
ID R55X(14); standard; MUTATION; SH2
Accession A0084
Original code HLH-SM
Description Nonsense mutation in the exon 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11159547
RefAuthors Arico, M., Imashuku, S., Clementi, R., Hibi, S, Teramura,
RefAuthors T., damesino, C., Haber, D. A. and Nichols, K. E.
RefTitle Hemophagocytic lymphohistiocytic due to germline mutations
RefTitle in SH2D1A, the X-linked lymphoproliferative disease
RefTitle gene
RefLoc Blood, 97: 1131-1133 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Symptoms Classical XLP
Protein struct Premature stop
Sex XY
Ethnic origin italy
Family history Inherited
Comment -!-Family history: a brother diagnosed with fever and cytopenia
Comment -!-Family history: during infancy and a second male sibling
Comment -!-Family history: with Burkitt's lymphoma at the age of 3
Comment -!-Symptoms: hemophagocytic lymphocytosis
//
ID R55X(15a); standard; MUTATION; SH2
Accession A0092
Original code 1
Description Nonsense mutation in the exon 2
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11493483
RefAuthors Sumazaki, R., Kanegane, H., Osaki, M., Fukushima, T.,
RefAuthors Tsuchida, M., Matsukura, H., Shinozaki, K., Kimura, H.,
RefAuthors Matsui, A., Miyawaki, T.
RefTitle SH2D1A mutations in Japanese males with severe
RefTitle Epstain-Barr virus-associated illnesses
RefLoc Blood 98:1268-1270 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Protein struct Premature stop
Symptoms Classical XLP
Family history Inherited
Ethnic origin Japanese
Relative SH2D1A; A0093 brother
Comment -!-Family history: carriers gramdmother
Comment -!-Family history: and mother; ref [1]
Comment -!-Clinical history: died after 19 days
Comment -!-Symptoms: fulminant infectious mononucleosis
//
ID R55X(15b); standard; MUTATION; SH2
Accession A0093
Original code 2
Description Nonsense mutation in the exon 2
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11493483
RefAuthors Sumazaki, R., Kanegane, H., Osaki, M., Fukushima, T.,
RefAuthors Tsuchida, M., Matsukura, H., Shinozaki, K., Kimura, H.,
RefAuthors Matsui, A., Miyawaki, T.
RefTitle SH2D1A mutations in Japanese males with severe
RefTitle Epstain-Barr virus-associated illnesses
RefLoc Blood 98:1268-1270 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Protein struct Premature stop
Symptoms Classical XLP
Family history Inherited
Ethnic origin Japanese
Relative SH2D1A; A0092 brother
Comment -!-Family history: carriers gramdmother
Comment -!-Family history: and mother; ref [1]
Comment -!-Clinical history: died after 20 days
Comment -!-Symptoms: fulminant infectious mononucleosis
//
ID R55X(16); standard; MUTATION; SH2
Accession A0094
Original code 3
Description Nonsense mutation in the exon 2
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11493483
RefAuthors Sumazaki, R., Kanegane, H., Osaki, M., Fukushima, T.,
RefAuthors Tsuchida, M., Matsukura, H., Shinozaki, K., Kimura, H.,
RefAuthors Matsui, A., Miyawaki, T.
RefTitle SH2D1A mutations in Japanese males with severe
RefTitle Epstain-Barr virus-associated illnesses
RefLoc Blood 98:1268-1270 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Protein struct Premature stop
Symptoms Classical XLP
Family history Sporadic
Ethnic origin Japanese
Comment -!-Clinical history: died after 18 days
Comment -!-Symptoms: fulminant infectious mononucleosis
//
ID R55X(17a); standard; MUTATION; SH2
Accession A0098
Original code CL
Description Point mutation in the exon 2 leading to stop codon in SH2
Description domain
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11520777
RefAuthors Morra, M., Silander, O., Calpe, S., Choi, M.,
RefAuthors Oettgen, H., Myers, L., Etzioni, A., Buckley, R.,
RefAuthors Terhorst, C.
RefTitle Alterations of the X-linked lymphoproliferative
RefTitle disease gene SH2D1A in common variable
RefTitle immunodeficiency syndrome
RefLoc Blood 98: 1321-1325 (2001)
RefNumber [2]
RefCrossRef PUBMED; 4174268
RefAuthors Buckley, R.H., Sidbury, J.B.
RefTitle Hereditary alterations in the immune response: and
RefTitle coexistence of "agammaglobulinemia", acquired
RefTitle hypogammaglobulinemia selective immunoglobulin
RefTitle deficiency in a sibship
RefLoc Pediatr Res 2:72-84 (1968)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AL023657; GI:3153107; HSDSHP: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Feature /domain: SH2
Protein struct Premature stop
Symptoms Classical XLP
Sex XY
Family history Inherited
Relative SH2D1A; A0099 grandfather
Comment -!-Family history: well-studied pedigree and patient
Comment -!-Family history: information; ref [1,2]
Comment -!-Family history: two affected great-uncles and
Comment -!-Family history: a carrier mother
Comment -!-Symptoms: died at the age of 22 months of an
Comment -!-Symptoms: Aspergillus infection secondary to
Comment -!-Symptoms: aplastic anemia
//
ID R55X(17b); standard; MUTATION; SH2
Accession A0099
Original code CG
Description Point mutation in the exon 2 leading to stop codon in SH2
Description domain
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11520777
RefAuthors Morra, M., Silander, O., Calpe, S., Choi, M.,
RefAuthors Oettgen, H., Myers, L., Etzioni, A., Buckley, R.,
RefAuthors Terhorst, C.
RefTitle Alterations of the X-linked lymphoproliferative
RefTitle disease gene SH2D1A in common variable
RefTitle immunodeficiency syndrome
RefLoc Blood 98: 1321-1325 (2001)
RefNumber [2]
RefCrossRef PUBMED; 4174268
RefAuthors Buckley, R.H., Sidbury, J.B.
RefTitle Hereditary alterations in the immune response: and
RefTitle coexistence of "agammaglobulinemia", acquired
RefTitle hypogammaglobulinemia selective immunoglobulin
RefTitle deficiency in a sibship
RefLoc Pediatr Res 2:72-84 (1968)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AL023657; GI:3153107; HSDSHP: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Feature /domain: SH2
Protein struct Premature stop
Symptoms Classical XLP
Sex XY
Family history Inherited
Relative SH2D1A; A0099 grandson
Comment -!-Family history: well-studied pedigree and patient
Comment -!-Family history: information; ref [1,2]
Comment -!-Family history: two affected brothers and
Comment -!-Family history: a carrier daughter
Comment -!-Symptoms: died at the age of 38 of bacterial pneumonia
//
ID R55X(18); standard; MUTATION; SH2
Accession A0115
Systematic name g.58464C>T, c.163C>T, r.163c>u, p.Arg55X
Original code HLH-SM
Description A point mutation in the exon 2 leading to a premature stop
Description codon in the SH2 domain
Date 05-Mar-2007 (Rel. 1, Created)
Date 05-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11159547
RefAuthors Arico, M., Imashuku, S., Clementi, R., Hibi, S., Teramura,
RefAuthors T., Danesino, C., Haber, D. A., Nichols, K. E.
RefTitle Hemophagocytic lymphohistiocytosis due to germline
RefTitle mutations in SH2D1A, the X-linked lymphoproliferative
RefTitle disease gene.
RefLoc Blood:1131-1133 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: SH21A_HUMAN: 55
Feature /change: R -> X
Feature /domain: SH2
Diagnosis X-linked lymphoproliferative syndrome
Sex XY
Ethnic origin Italy
//
ID R55X(19); standard; MUTATION; SH2
Accession A0117
Systematic name g.58464C>T, c.163C>T, r.163c>u, p.Arg55X
Original code PR
Description A point mutation in the exon 2 leading to a premature stop
Description codon in the SH2 domain
Date 05-Mar-2007 (Rel. 1, Created)
Date 05-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12224001
RefAuthors Parolini, O., Kagerbauer, B., Simonitsch-Klupp, I.,
RefAuthors Ambros, P., Jaeger, U., Mann, G., Haas, O. A., Morra, M.,
RefAuthors Gadner, H., Terhorst, C., Knapp, W., Holter, W.
RefTitle Analysis of SH2D1A mutations in patients with severe
RefTitle epstein-barr virus infections, burkitt's lymphoma, and
RefTitle hodgkin's lymphoma.
RefLoc Ann Hematol:441-447 (2002)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: SH21A_HUMAN: 55
Feature /change: R -> X
Feature /domain: SH2
Diagnosis X-linked lymphoproliferative syndrome
//
ID R55X(20a); standard; MUTATION; SH2
Accession A0118
Systematic name g.58464C>T, c.163C>T, r.163c>u, p.Arg55X
Description A point mutation in the exon 2 leading to a premature stop
Description codon in the SH2 domain
Date 05-Mar-2007 (Rel. 1, Created)
Date 05-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12356686
RefAuthors Shinozaki, K., Kanegane, H., Matsukura, H., Sumazaki, R.,
RefAuthors Tsuchida, M., Makita, M., Kimoto, Y., Kanai, R., Tsumura,
RefAuthors K., Kondoh, T., Moriuchi, H., Miyawaki, T.
RefTitle Activation-dependent T cell expression of the X-linked
RefTitle lymphoproliferative disease gene product SLAM-associated
RefTitle protein and its assessment for patient detection.
RefLoc Int Immunol:1215-1223 (2002)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: SH21A_HUMAN: 55
Feature /change: R -> X
Feature /domain: SH2
Protein level Reduced
Diagnosis X-linked lymphoproliferative syndrome
Symptoms remittent fever, lymph node swelling in cervical and
Symptoms inguinal regions, hepatosplenomegaly, EBV infection,
Symptoms hypogammaglobulinemia
Age 6-7
Sex XY
Ethnic origin Japan
Relative SH2D1Abase; A0119 brother
IgA <4mg/dl
IgG 54 mg/dl
IgM 14mg/dl
Comment Patient underwent a successful bone marrow transplantation
//
ID R55X(20b); standard; MUTATION; SH2
Accession A0119
Systematic name g.58464C>T, c.163C>T, r.163c>u, p.Arg55X
Description A point mutation in the exon 2 leading to a premature stop
Description codon in the SH2 domain
Date 05-Mar-2007 (Rel. 1, Created)
Date 05-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12356686
RefAuthors Shinozaki, K., Kanegane, H., Matsukura, H., Sumazaki, R.,
RefAuthors Tsuchida, M., Makita, M., Kimoto, Y., Kanai, R., Tsumura,
RefAuthors K., Kondoh, T., Moriuchi, H., Miyawaki, T.
RefTitle Activation-dependent T cell expression of the X-linked
RefTitle lymphoproliferative disease gene product SLAM-associated
RefTitle protein and its assessment for patient detection.
RefLoc Int Immunol:1215-1223 (2002)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: SH21A_HUMAN: 55
Feature /change: R -> X
Feature /domain: SH2
Diagnosis X-linked lymphoproliferative syndrome
Age 0.5
Sex XY
Ethnic origin Japan
Relative SH2D1Abase; A0118 brother
Comment Monthly i.v. Ig was begun after diagnosis to prevent severe
Comment EBV-induced illnesses
//
ID Q58X(1); standard; MUTATION; SH2
Accession A0005
Original code T
Description Point mutation in the exon 2 leading to stop codon in SH2
Description domain
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9811875
RefAuthors Nichols, K.E., Harkin, D.P., Levitz, S., Krainer, M.,
RefAuthors Kolquist, K.A., Genovese, C., Bernard, A., Ferguson, M.,
RefAuthors Zuo, L., Snyder, E., Buckler, A.J., Wise, C., Ashley, J.,
RefAuthors Lovett, M., Valentine, M.B., Look, A.T., Gerald, W.,
RefAuthors Housman, D.E., Haber, D.A.
RefTitle Inactivating mutations in an SH2 domain-encoding gene in
RefTitle X-linked lymphoproliferative syndrome
RefLoc Proc. Natl. Acad. Sci. USA 95:13765-13770 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58473
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AL023657; GI:3153107; HSDSHP: 471
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 58
Feature /change: Q -> X
Feature /domain: SH2
Protein struct Premature stop
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Symptoms: fulminant IM, EBV-associated lymphoma
Comment -!-Symptoms: or hypogammaglobulinemia
//
ID Q58X(2); standard; MUTATION; SH2
Accession A0006
Original code 8005; 2; Lb8005
Description Point mutation in the exon 2 leading to stop codon in SH2
Description domain
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9811875
RefAuthors Nichols, K.E., Harkin, D.P., Levitz, S., Krainer, M.,
RefAuthors Kolquist, K.A., Genovese, C., Bernard, A., Ferguson, M.,
RefAuthors Zuo, L., Snyder, E., Buckler, A.J., Wise, C., Ashley, J.,
RefAuthors Lovett, M., Valentine, M.B., Look, A.T., Gerald, W.,
RefAuthors Housman, D.E., Haber, D.A.
RefTitle Inactivating mutations in an SH2 domain-encoding gene in
RefTitle X-linked lymphoproliferative syndrome
RefLoc Proc. Natl. Acad. Sci. USA 95:13765-13770 (1998)
RefNumber [2]
RefCrossRef PUBMED; 9771704
RefAuthors Coffey, A.J., Brooksbank, R.A., Brandau, O., Oohashi, T.,
RefAuthors Howell, G.R., Bye, J.M., Cahn, A.P., Durham, J., Heath,
RefAuthors P., Wray, P., Pavitt, R., Wilkinson, J., Leversha, M.,
RefAuthors Huckle, E., Shaw-Smith, C.J., Dunham, A., Rhodes, S.,
RefAuthors Schuster, V., Porta, G., Yin, L., Serafini, P., Sylla, B.,
RefAuthors Zollo, M., Franco, B., Bolino, A., Seri, A., Lanyi, A.,
RefAuthors Davis, J.R., Webster, D., Harris, A., Lenoir, G., de St
RefAuthors Basile, G., Jones, A., Behloradsky, B.H., Achhatz, H.,
RefAuthors Murgen, J., Fassler, R., Sumegi, J., Romeo, G., Vaudin,
RefAuthors M., Ross, M.T., Meindl, A., Bentley, D.R.
RefTitle Host response to EBV infection in X-linked
RefTitle lymphoproliferative disease results from mutations in an
RefTitle SH2-domain encoding gene
RefLoc Nature Genetics 20:129-135 (1998)
RefNumber [3]
RefCrossRef PUBMED; 10598819
RefAuthors Yin, L., Ferrand, V., Lavou�, M-F., Hayoz, D., Philipe, N.,
RefAuthors Souillet, G., Seri, M., Giacchino, R., Castagnola, E.,
RefAuthors Hodgson, S., Sylla B.S., Romeo, G.
RefTitle SH2D1A mutation analysis for diagnosis of XLP in typical
RefTitle and atypical patients
RefLoc Human Genetics 105:501-505 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58473
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL:AL023657; GI:3153107; HSDSHP: 471
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 58
Feature /change: Q -> X
Feature /domain: SH2
Protein struct Premature stop
Symptoms Classical XLP
Sex XY
Family history De novo
//
ID #T61X66(1); standard; MUTATION; SH2
Accession A0007
Original code 8001
Description Deletion of 23 nucleotides from the exon 2 leading to
Description premature stop in the SH2 domain
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9811875
RefAuthors Nichols, K.E., Harkin, D.P., Levitz, S., Krainer, M.,
RefAuthors Kolquist, K.A., Genovese, C., Bernard, A., Ferguson, M.,
RefAuthors Zuo, L., Snyder, E., Buckler, A.J., Wise, C., Ashley, J.,
RefAuthors Lovett, M., Valentine, M.B., Look, A.T., Gerald, W.,
RefAuthors Housman, D.E., Haber, D.A.
RefTitle Inactivating mutations in an SH2 domain-encoding gene in
RefTitle X-linked lymphoproliferative syndrome
RefLoc Proc. Natl. Acad. Sci. USA 95:13765-13770 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 58483..58505
Feature /change: -caggttcttg gagtgctgag aca
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 481..503
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 61..68
Feature /change: TGSWSAET -> STWGTX
Protein struct Premature stop
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Symptoms: fulminant IM, EBV-associated lymphoma
Comment -!-Symptoms: or hypogammaglobulinemia
//
ID W64X(1); standard; MUTATION; SH2
Accession A0067
Description Nonsense mutation in the exon 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58492
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 490
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 64
Feature /change: W -> X
Symptoms Classical XLP
Protein struct Premature stop
Sex XY
Family history Inherited
Comment -!-Family history: 5 other affected males in the K084
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis
//
ID W64X(2); standard; MUTATION; SH2
Accession A0068
Description Nonsense mutation in the exon 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58492
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 490
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 64
Feature /change: W -> X
Symptoms Classical XLP
Protein struct Premature stop
Sex XY
Family history Inherited
Comment -!-Family history: 2 other affected males in the K054
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: lymphoproliferative disorders
//
ID E67D(1a); standard; MUTATION; SH2
Accession A0014
Original code 5
Description Point mutation in the exon 13 creating cryptic
Description splice site
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9771704
RefAuthors Coffey, A.J., Brooksbank, R.A., Brandau, O., Oohashi, T.,
RefAuthors Howell, G.R., Bye, J.M., Cahn, A.P., Durham, J., Heath,
RefAuthors P., Wray, P., Pavitt, R., Wilkinson, J., Leversha, M.,
RefAuthors Huckle, E., Shaw-Smith, C.J., Dunham, A., Rhodes, S.,
RefAuthors Schuster, V., Porta, G., Yin, L., Serafini, P., Sylla, B.,
RefAuthors Zollo, M., Franco, B., Bolino, A., Seri, A., Lanyi, A.,
RefAuthors Davis, J.R., Webster, D., Harris, A., Lenoir, G., de St
RefAuthors Basile, G., Jones, A., Behloradsky, B.H., Achhatz, H.,
RefAuthors Murgen, J., Fassler, R., Sumegi, J., Romeo, G., Vaudin,
RefAuthors M., Ross, M.T., Meindl, A., Bentley, D.R.
RefTitle Host response to EBV infection in X-linked
RefTitle lymphoproliferative disease results from mutations in an
RefTitle SH2-domain encoding gene
RefLoc Nature Genetics 20:129-135 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58502
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:3153107; HSDSHP: 500
Feature /codon: gag -> gat; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 67
Feature /change: E -> D
Feature /domain: SH2
Symptoms Classical XLP
Sex XY
Family history Inherited
Relative SH2D1A; A0015 brother
Relative SH2D1A; A0016brother
//
ID E67D(1b); standard; MUTATION; SH2
Accession A0015
Description Point mutation in the exon 13 creating cryptic
Description splice site
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9771704
RefAuthors Coffey, A.J., Brooksbank, R.A., Brandau, O., Oohashi, T.,
RefAuthors Howell, G.R., Bye, J.M., Cahn, A.P., Durham, J., Heath,
RefAuthors P., Wray, P., Pavitt, R., Wilkinson, J., Leversha, M.,
RefAuthors Huckle, E., Shaw-Smith, C.J., Dunham, A., Rhodes, S.,
RefAuthors Schuster, V., Porta, G., Yin, L., Serafini, P., Sylla, B.,
RefAuthors Zollo, M., Franco, B., Bolino, A., Seri, A., Lanyi, A.,
RefAuthors Davis, J.R., Webster, D., Harris, A., Lenoir, G., de St
RefAuthors Basile, G., Jones, A., Behloradsky, B.H., Achhatz, H.,
RefAuthors Murgen, J., Fassler, R., Sumegi, J., Romeo, G., Vaudin,
RefAuthors M., Ross, M.T., Meindl, A., Bentley, D.R.
RefTitle Host response to EBV infection in X-linked
RefTitle lymphoproliferative disease results from mutations in an
RefTitle SH2-domain encoding gene
RefLoc Nature Genetics 20:129-135 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58502
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:3153107; HSDSHP: 500
Feature /codon: gag -> gat; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 67
Feature /change: E -> D
Feature /domain: SH2
Symptoms Classical XLP
Sex XY
Family history Inherited
Relative SH2D1A; A0014 brother
Relative SH2D1A; A0016 brother
//
ID E67D(1c); standard; MUTATION; SH2
Accession A0016
Description Point mutation in the exon 2 creating cryptic
Description splice site
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9771704
RefAuthors Coffey, A.J., Brooksbank, R.A., Brandau, O., Oohashi, T.,
RefAuthors Howell, G.R., Bye, J.M., Cahn, A.P., Durham, J., Heath,
RefAuthors P., Wray, P., Pavitt, R., Wilkinson, J., Leversha, M.,
RefAuthors Huckle, E., Shaw-Smith, C.J., Dunham, A., Rhodes, S.,
RefAuthors Schuster, V., Porta, G., Yin, L., Serafini, P., Sylla, B.,
RefAuthors Zollo, M., Franco, B., Bolino, A., Seri, A., Lanyi, A.,
RefAuthors Davis, J.R., Webster, D., Harris, A., Lenoir, G., de St
RefAuthors Basile, G., Jones, A., Behloradsky, B.H., Achhatz, H.,
RefAuthors Murgen, J., Fassler, R., Sumegi, J., Romeo, G., Vaudin,
RefAuthors M., Ross, M.T., Meindl, A., Bentley, D.R.
RefTitle Host response to EBV infection in X-linked
RefTitle lymphoproliferative disease results from mutations in an
RefTitle SH2-domain encoding gene
RefLoc Nature Genetics 20:129-135 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58502
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:3153107; HSDSHP: 500
Feature /codon: gag -> gat; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 67
Feature /change: E -> D
Feature /domain: SH2
Symptoms Classical XLP
Sex XY
Family history Inherited
Relative SH2D1A; A0014 brother
Relative SH2D1A; A0015 brother
//
ID E67E(1); standard; MUTATION; SH2
Accession A0137
Systematic name g.58502G>A, c.201G>A, r.201g>a, p.Glu67Glu
Description A point mutation in the exon 2 leading to an amino acid
Description change in the SH2 domain
Date 02-Jun-2008 (Rel. 1, Created)
Date 02-Jun-2008 (Rel. 1, Last updated, Version 1)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58502
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078; GI:312466; SH2D1AC: 500
Feature /codon: gag -> gaa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 67
Feature /change: E -> E
Feature /domain: SH2
Diagnosis X-linked lymphoproliferative syndrome
Symptoms fever, hepatosplenomegaly, lymphadenopathy,
Symptoms thrombocytopenia, hepatitis with predominantly lymphocytic
Symptoms infiltration and erythtophagocytosis
Age 3.5 y
Sex XY
Family history Inherited
//
ID T68I(1); standard; MUTATION; SH2
Accession A0017
Original code 8
Description Missense mutation in the exon 3 leading to amino acid
Description change in SH2 domain
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9771704
RefAuthors Coffey, A.J., Brooksbank, R.A., Brandau, O., Oohashi, T.,
RefAuthors Howell, G.R., Bye, J.M., Cahn, A.P., Durham, J., Heath,
RefAuthors P., Wray, P., Pavitt, R., Wilkinson, J., Leversha, M.,
RefAuthors Huckle, E., Shaw-Smith, C.J., Dunham, A., Rhodes, S.,
RefAuthors Schuster, V., Porta, G., Yin, L., Serafini, P., Sylla, B.,
RefAuthors Zollo, M., Franco, B., Bolino, A., Seri, A., Lanyi, A.,
RefAuthors Davis, J.R., Webster, D., Harris, A., Lenoir, G., de St
RefAuthors Basile, G., Jones, A., Behloradsky, B.H., Achhatz, H.,
RefAuthors Murgen, J., Fassler, R., Sumegi, J., Romeo, G., Vaudin,
RefAuthors M., Ross, M.T., Meindl, A., Bentley, D.R.
RefTitle Host response to EBV infection in X-linked
RefTitle lymphoproliferative disease results from mutations in an
RefTitle SH2-domain encoding gene
RefLoc Nature Genetics 20:129-135 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62855
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:3153107; HSDSHP: 502
Feature /codon: aca -> ata; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 68
Feature /change: T -> I
Feature /domain: SH2
Symptoms Classical XLP
Sex XY
Family history De novo
//
ID Y76X(1); standard; MUTATION;
Accession A0085
Original code HLH-MP
Description Nonsense mutation in the exon 3
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11159547
RefAuthors Arico, M., Imashuku, S., Clementi, R., Hibi, S, Teramura,
RefAuthors T., damesino, C., Haber, D. A. and Nichols, K. E.
RefTitle Hemophagocytic lymphohistiocytic due to germline mutations
RefTitle in SH2D1A, the X-linked lymphoproliferative disease
RefTitle gene
RefLoc Blood, 97: 1131-1133 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62880
Feature /change: t -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 527
Feature /codon: tat -> taa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 76
Feature /change: Y -> X
Symptoms Classical XLP
Protein struct Premature stop
Sex XY
Ethnic origin italy
Family history Sporadic
Comment -!-Symptoms: hemophagocytic lymphocytosis
//
ID Y76X(2); standard; MUTATION; SH2
Accession A0116
Systematic name g.62880T>A, c.228T>A, r.228u>a, p.Tyr76X
Original code HLH-MP
Description A point mutation in the exon 3 leading to a premature stop
Description codon in the SH2 domain
Date 05-Mar-2007 (Rel. 1, Created)
Date 05-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11159547
RefAuthors Arico, M., Imashuku, S., Clementi, R., Hibi, S., Teramura,
RefAuthors T., Danesino, C., Haber, D. A., Nichols, K. E.
RefTitle Hemophagocytic lymphohistiocytosis due to germline
RefTitle mutations in SH2D1A, the X-linked lymphoproliferative
RefTitle disease gene.
RefLoc Blood:1131-1133 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62880
Feature /change: t -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 527
Feature /codon: tat -> taa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: SH21A_HUMAN: 76
Feature /change: Y -> X
Feature /domain: SH2
Diagnosis Hemophagocytic lymphohistiocytosis (HLH)
Sex XY
Ethnic origin Italy
//
ID #I80X94(1); standard; MUTATION; SH2
Accession A0030
Original code 02
Description Frameshift deletion in the exon 3
Date 11-Jan-2000 (Rel. 1, Created)
Date 11-Jan-2000 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10556288
RefAuthors Brandau, O., Schuster, V., Weiss, M., Hellebrand, H.,
RefAuthors Fink, F.M., Kreczy, A., Friedrich, W., Strahm, B.,
RefAuthors Niemeyer, C., Belohradsky, B.H., Meindl, A.
RefTitle Epstein-barr virus-negative boys with non-hodgkin
RefTitle lymphoma are mutated in the SH2D1A gene, as are patients
RefTitle with X-linked lymphoproliferative disease (XLP)
RefLoc Human Molecular Genetics 8:2407-2413 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 62891..62894
Feature /change: -taaa
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 538..541
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 80..81
Feature /change: IK -> KISFQHFRSQ IKAFX
Symptoms Classical XLP
Date of birth 1985
Sex XY
Family history Sporadic
Comment -!-Symptoms: hypogammaglobulinemia, infectious mononucleosis,
Comment -!-Symptoms: EBV serology, anemia
//
ID @N82X103(1); standard; MUTATION; SH2
Accession A0108
Systematic name g.62897dupA, c.245dupA, r.245dupa, p.Asn82fsX22
Description A frame shift duplication mutation in the exon 3 leading to
Description a premature stop codon in the SH2 domain
Date 02-Mar-2007 (Rel. 1, Created)
Date 02-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16720617
RefAuthors Hare, N. J., Ma, C. S., Alvaro, F., Nichols, K. E.,
RefAuthors Tangye, S. G.
RefTitle Missense mutations in SH2D1A identified in patients with X-
RefTitle linked lymphoproliferative disease differentially affect
RefTitle the expression and function of SAP.
RefLoc Int Immunol:1055-1065 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0078: 62898
Feature /change: +a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 545
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: SH21A_HUMAN: 82
Feature /change: N -> KSHFSISEAR SRHCNTSAVS SX
Feature /domain: SH2
Diagnosis X-linked lymphoproliferative syndrome
//
ID #L83X100(1a); standard; MUTATION; SH2
Accession A0100
Original code AB
Description Frameshift deletion in the exon 3
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11520777
RefAuthors Morra, M., Silander, O., Calpe, S., Choi, M.,
RefAuthors Oettgen, H., Myers, L., Etzioni, A., Buckley, R.,
RefAuthors Terhorst, C.
RefTitle Alterations of the X-linked lymphoproliferative
RefTitle disease gene SH2D1A in common variable
RefTitle immunodeficiency syndrome
RefLoc Blood 98: 1321-1325 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 62901..62908
Feature /change: -catttcag
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 548..555
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 83..86
Feature /change: LISA -> LISEARSRHC NTSAVSSX
Symptoms Classical XLP
Protein struct Large deletion
Relative SH2D1A; A0101 brother
Relative SH2D1A; A0102 cousin
Relative SH2D1A; A0103 cousin
Relative SH2D1A; A0104 cousin
Comment -!-Family history: an affected cousin died of
Comment -!-Family history: fulminant mononucleosis
Comment -!-Family history: mother and her sister carriers
Comment -!-Symptoms: pneumonia and Escherichia coli sepsis
Comment -!-Symptoms: at 1 year, under intravenous
Comment -!-Clinical history: immunoglobulin treatment
//
ID #L83X100(1b); standard; MUTATION; SH2
Accession A0101
Original code AC
Description Frameshift deletion in the exon 3
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11520777
RefAuthors Morra, M., Silander, O., Calpe, S., Choi, M.,
RefAuthors Oettgen, H., Myers, L., Etzioni, A., Buckley, R.,
RefAuthors Terhorst, C.
RefTitle Alterations of the X-linked lymphoproliferative
RefTitle disease gene SH2D1A in common variable
RefTitle immunodeficiency syndrome
RefLoc Blood 98: 1321-1325 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 62901..62908
Feature /change: -catttcag
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 548..555
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 83..86
Feature /change: LISA -> LISEARSRHC NTSAVSSX
Symptoms Classical XLP
Protein struct Large deletion
Relative SH2D1A; A0100 brother
Relative SH2D1A; A0102 cousin
Relative SH2D1A; A0103 cousin
Relative SH2D1A; A0104 cousin
Comment -!-Family history: an affected cousin died of
Comment -!-Family history: fulminant mononucleosis
Comment -!-Family history: mother and her sister carriers
Comment -!-Symptoms: pneumonia and agammaglobulinemia developed
Comment -!-Symptoms: at 10 months, under intravenous
Comment -!-Clinical history: immunoglobulin treatment
//
ID #L83X100(1c); standard; MUTATION; SH2
Accession A0102
Original code BB
Description Frameshift deletion in the exon 3
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11520777
RefAuthors Morra, M., Silander, O., Calpe, S., Choi, M.,
RefAuthors Oettgen, H., Myers, L., Etzioni, A., Buckley, R.,
RefAuthors Terhorst, C.
RefTitle Alterations of the X-linked lymphoproliferative
RefTitle disease gene SH2D1A in common variable
RefTitle immunodeficiency syndrome
RefLoc Blood 98: 1321-1325 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 62901..62908
Feature /change: -catttcag
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 548..555
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 83..86
Feature /change: LISA -> LISEARSRHC NTSAVSSX
Symptoms Classical XLP
Protein struct Large deletion
Relative SH2D1A; A0100 cousin
Relative SH2D1A; A0101 cousin
Relative SH2D1A; A0103 brother
Relative SH2D1A; A0104 brother
Comment -!-Family history: an affected brother died of
Comment -!-Family history: fulminant mononucleosis
Comment -!-Family history: mother and her sister carriers
Comment -!-Symptoms: died of fulminant infectious
Comment -!-Symptoms: mononucleosis
//
ID #L83X100(1d); standard; MUTATION; SH2
Accession A0103
Original code BC
Description Frameshift deletion in the exon 3
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11520777
RefAuthors Morra, M., Silander, O., Calpe, S., Choi, M.,
RefAuthors Oettgen, H., Myers, L., Etzioni, A., Buckley, R.,
RefAuthors Terhorst, C.
RefTitle Alterations of the X-linked lymphoproliferative
RefTitle disease gene SH2D1A in common variable
RefTitle immunodeficiency syndrome
RefLoc Blood 98: 1321-1325 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 62901..62908
Feature /change: -catttcag
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 548..555
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 83..86
Feature /change: LISA -> LISEARSRHC NTSAVSSX
Symptoms Classical XLP
Protein struct Large deletion
Relative SH2D1A; A0100 cousin
Relative SH2D1A; A0101 cousin
Relative SH2D1A; A0102 brother
Relative SH2D1A; A0104 brother
Comment -!-Family history: an affected brother died of
Comment -!-Family history: fulminant mononucleosis
Comment -!-Family history: mother and her sister carriers
Comment -!-Symptoms: fulminant infectious mononucleosis, was
Comment -!-Symptoms: treated with methylprednisolone and VP-16
Comment -!-Symptoms: died before bone marrow transplantation
//
ID #L83X100(1e); standard; MUTATION; SH2
Accession A0104
Original code BD
Description Frameshift deletion in the exon 3
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11520777
RefAuthors Morra, M., Silander, O., Calpe, S., Choi, M.,
RefAuthors Oettgen, H., Myers, L., Etzioni, A., Buckley, R.,
RefAuthors Terhorst, C.
RefTitle Alterations of the X-linked lymphoproliferative
RefTitle disease gene SH2D1A in common variable
RefTitle immunodeficiency syndrome
RefLoc Blood 98: 1321-1325 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 62901..62908
Feature /change: -catttcag
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 548..555
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 83..86
Feature /change: LISA -> LISEARSRHC NTSAVSSX
Symptoms Classical XLP
Protein struct Large deletion
Relative SH2D1A; A0099 cousin
Relative SH2D1A; A0100 cousin
Relative SH2D1A; A0101 cousin
Relative SH2D1A; A0102 brother
Relative SH2D1A; A0103 brother
Comment -!-Family history: an affected brother died of
Comment -!-Family history: fulminant mononucleosis
Comment -!-Family history: mother and her sister carriers
Comment -!-Symptoms: bone marrow transplantation from a
Comment -!-Symptoms: sister, no complications during of after
Comment -!-Symptoms: transplantation
//
ID I84T(1a); standard; MUTATION; SH2
Accession A0124
Systematic name g.62903T>C, c.251T>C, r.251u>c, p.Ile84Thr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2 domain
Date 06-Mar-2007 (Rel. 1, Created)
Date 06-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16720617
RefAuthors Hare, N. J., Ma, C. S., Alvaro, F., Nichols, K. E.,
RefAuthors Tangye, S. G.
RefTitle Missense mutations in SH2D1A identified in patients with X-
RefTitle linked lymphoproliferative disease differentially affect
RefTitle the expression and function of SAP.
RefLoc Int Immunol:1055-1065 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62903
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 550
Feature /codon: att -> act; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 84
Feature /change: I -> T
Feature /domain: SH2
Protein level Much reduced
Diagnosis X-linked lymphoproliferative syndrome
Family history Inherited
Relative SH2D1Abase; A0125
Relative SH2D1Abase; A0126
Relative SH2D1Abase; A0127
Relative SH2D1Abase; A0128
Relative SH2D1Abase; A0129
//
ID I84T(1b); standard; MUTATION; SH2
Accession A0125
Systematic name g.62903T>C, c.251T>C, r.251u>c, p.Ile84Thr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2 domain
Date 06-Mar-2007 (Rel. 1, Created)
Date 06-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16720617
RefAuthors Hare, N. J., Ma, C. S., Alvaro, F., Nichols, K. E.,
RefAuthors Tangye, S. G.
RefTitle Missense mutations in SH2D1A identified in patients with X-
RefTitle linked lymphoproliferative disease differentially affect
RefTitle the expression and function of SAP.
RefLoc Int Immunol:1055-1065 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62903
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 550
Feature /codon: att -> act; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 84
Feature /change: I -> T
Feature /domain: SH2
Protein level Much reduced
Diagnosis X-linked lymphoproliferative syndrome
Family history Inherited
Relative SH2D1Abase; A0124
Relative SH2D1Abase; A0126
Relative SH2D1Abase; A0127
Relative SH2D1Abase; A0128
Relative SH2D1Abase; A0129
//
ID I84T(1c); standard; MUTATION; SH2
Accession A0126
Systematic name g.62903T>C, c.251T>C, r.251u>c, p.Ile84Thr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2 domain
Date 06-Mar-2007 (Rel. 1, Created)
Date 06-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16720617
RefAuthors Hare, N. J., Ma, C. S., Alvaro, F., Nichols, K. E.,
RefAuthors Tangye, S. G.
RefTitle Missense mutations in SH2D1A identified in patients with X-
RefTitle linked lymphoproliferative disease differentially affect
RefTitle the expression and function of SAP.
RefLoc Int Immunol:1055-1065 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62903
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 550
Feature /codon: att -> act; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 84
Feature /change: I -> T
Feature /domain: SH2
Protein level Much reduced
Diagnosis X-linked lymphoproliferative syndrome
Family history Inherited
Relative SH2D1Abase; A0124
Relative SH2D1Abase; A0125
Relative SH2D1Abase; A0127
Relative SH2D1Abase; A0128
Relative SH2D1Abase; A0129
//
ID I84T(1d); standard; MUTATION; SH2
Accession A0127
Systematic name g.62903T>C, c.251T>C, r.251u>c, p.Ile84Thr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2 domain
Date 06-Mar-2007 (Rel. 1, Created)
Date 06-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16720617
RefAuthors Hare, N. J., Ma, C. S., Alvaro, F., Nichols, K. E.,
RefAuthors Tangye, S. G.
RefTitle Missense mutations in SH2D1A identified in patients with X-
RefTitle linked lymphoproliferative disease differentially affect
RefTitle the expression and function of SAP.
RefLoc Int Immunol:1055-1065 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62903
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 550
Feature /codon: att -> act; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 84
Feature /change: I -> T
Feature /domain: SH2
Protein level Much reduced
Diagnosis X-linked lymphoproliferative syndrome
Family history Inherited
Relative SH2D1Abase; A0124
Relative SH2D1Abase; A0125
Relative SH2D1Abase; A0126
Relative SH2D1Abase; A0128
Relative SH2D1Abase; A0129
//
ID I84T(1e); standard; MUTATION; SH2
Accession A0128
Systematic name g.62903T>C, c.251T>C, r.251u>c, p.Ile84Thr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2 domain
Date 06-Mar-2007 (Rel. 1, Created)
Date 06-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16720617
RefAuthors Hare, N. J., Ma, C. S., Alvaro, F., Nichols, K. E.,
RefAuthors Tangye, S. G.
RefTitle Missense mutations in SH2D1A identified in patients with X-
RefTitle linked lymphoproliferative disease differentially affect
RefTitle the expression and function of SAP.
RefLoc Int Immunol:1055-1065 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62903
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 550
Feature /codon: att -> act; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 84
Feature /change: I -> T
Feature /domain: SH2
Protein level Much reduced
Diagnosis X-linked lymphoproliferative syndrome
Family history Inherited
Relative SH2D1Abase; A0124
Relative SH2D1Abase; A0125
Relative SH2D1Abase; A0126
Relative SH2D1Abase; A0127
Relative SH2D1Abase; A0129
//
ID I84T(1f); standard; MUTATION; SH2
Accession A0129
Systematic name g.62903T>C, c.251T>C, r.251u>c, p.Ile84Thr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2 domain
Date 06-Mar-2007 (Rel. 1, Created)
Date 06-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16720617
RefAuthors Hare, N. J., Ma, C. S., Alvaro, F., Nichols, K. E.,
RefAuthors Tangye, S. G.
RefTitle Missense mutations in SH2D1A identified in patients with X-
RefTitle linked lymphoproliferative disease differentially affect
RefTitle the expression and function of SAP.
RefLoc Int Immunol:1055-1065 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62903
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 550
Feature /codon: att -> act; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 84
Feature /change: I -> T
Feature /domain: SH2
Protein level Much reduced
Diagnosis X-linked lymphoproliferative syndrome
Family history Inherited
Relative SH2D1Abase; A0124
Relative SH2D1Abase; A0125
Relative SH2D1Abase; A0126
Relative SH2D1Abase; A0127
Relative SH2D1Abase; A0128
//
ID F87S(1); standard; MUTATION; SH2
Accession A0069
Description Missense mutation in the exon 3
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62912
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078: 559
Feature /codon: ttt -> tct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 87
Feature /change: F -> S
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Family history: 2 other affected males in the K082
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: dysgammaglobulinemia
//
ID F87S(2a); standard; MUTATION; SH2
Accession A0106
Systematic name g.62912T>C, c.260T>C, r.260u>c, p.Phe87Ser
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2 domain
Date 01-Mar-2007 (Rel. 1, Created)
Date 01-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16720617
RefAuthors Hare, N. J., Ma, C. S., Alvaro, F., Nichols, K. E.,
RefAuthors Tangye, S. G.
RefTitle Missense mutations in SH2D1A identified in patients with X-
RefTitle linked lymphoproliferative disease differentially affect
RefTitle the expression and function of SAP.
RefLoc Int Immunol:1055-1065 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62912
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 559
Feature /codon: ttt -> tct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 87
Feature /change: F -> S
Feature /domain: SH2
Protein level Absent
Protein struct reduced half-life
Diagnosis X-linked lymphoproliferative syndrome
Family history Inherited
Relative SH2D1Abase; A0107
Comment The mutated protein was not able to associate with SLAM or
Comment 2B4, binding to CD84 partially reduced
//
ID F87S(2b); standard; MUTATION; SH2
Accession A0107
Systematic name g.62912T>C, c.260T>C, r.260u>c, p.Phe87Ser
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2 domain
Date 01-Mar-2007 (Rel. 1, Created)
Date 01-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16720617
RefAuthors Hare, N. J., Ma, C. S., Alvaro, F., Nichols, K. E.,
RefAuthors Tangye, S. G.
RefTitle Missense mutations in SH2D1A identified in patients with X-
RefTitle linked lymphoproliferative disease differentially affect
RefTitle the expression and function of SAP.
RefLoc Int Immunol:1055-1065 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62912
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 559
Feature /codon: ttt -> tct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 87
Feature /change: F -> S
Feature /domain: SH2
Protein level Absent
Protein struct reduced half-life
Diagnosis X-linked lymphoproliferative syndrome
Family history Inherited
Relative SH2D1Abase; A0106
Comment The mutated protein was not able to associate with SLAM or
Comment 2B4, binding to CD84 partially reduced
//
ID #F87X95(1); standard; MUTATION; SH2
Accession A0138
Systematic name g.62913delT, c.261delT, r.261delu, p.Gln88fsX8
Original code V:1
Description A frame shift deletion mutation in the exon 3 leading to a
Description premature stop codon in the SH2 domain
Date 26-Jul-2010 (Rel. 1, Created)
Date 26-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18702745
RefAuthors Woon, S. T., Ameratunga, R., Croxson, M., Taylor, G.,
RefAuthors Neas, K., Edkins, E., Browett, P., Gane, E., Munn, S.
RefTitle Follicular lymphoma in a X-linked lymphoproliferative
RefTitle syndrome carrier female.
RefLoc Scand J Immunol:153-158 (2008)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 62913
Feature /change: -t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078; GI:312466; SH2D1AC: 560
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: SH21A_HUMAN: 87
Feature /change: F -> FRSQIKALX
Feature /domain: SH2
Diagnosis X-linked lymphoproliferative syndrome
Age 19
Sex XY
Ethnic origin New zealand
Relative Description of pedigree:Patient's maternal uncle died of
Relative non-Hodgkin's lymphomaat age 10 years and maternal
Relative grandmother died of lymphoma at age 51 years.
Comment Patient died of hepatic failure.
//
ID #V95X117(1); standard; MUTATION; SH2
Accession A0095
Original code 5
Description Frameshift deletion in the exon 3
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11493483
RefAuthors Sumazaki, R., Kanegane, H., Osaki, M., Fukushima, T.,
RefAuthors Tsuchida, M., Matsukura, H., Shinozaki, K., Kimura, H.,
RefAuthors Matsui, A., Miyawaki, T.
RefTitle SH2D1A mutations in Japanese males with severe
RefTitle Epstain-Barr virus-associated illnesses
RefLoc Blood 98:1268-1270 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 62937
Feature /change: -a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 584
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 95
Feature /change: V -> VYLCSIQLRR SPQLEVHKVL QGX
Protein struct Large deletion
Symptoms Classical XLP
Family history Sporadic
Ethnic origin Japanese
Comment -!-Clinical history: died after 34 days
Comment -!-Symptoms: fulminant infectious mononucleosis
//
ID Q99P(1); standard; MUTATION; SH2
Accession A0070
Description Missense mutation in the exon 3
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62948
Feature /change: a -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078: 595
Feature /codon: cag -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 99
Feature /change: Q -> P
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Family history: 16 other affected males in the K002
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: lymphoproliferative disorders,
Comment -!-Symptoms: dysgammaglobulinemia
//
ID Y100X(1a); standard; MUTATION; SH2
Accession A0031
Original code 03a
Description Nonsense mutation in the exon 3
Date 11-Jan-2000 (Rel. 1, Created)
Date 11-Jan-2000 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10556288
RefAuthors Brandau, O., Schuster, V., Weiss, M., Hellebrand, H.,
RefAuthors Fink, F.M., Kreczy, A., Friedrich, W., Strahm, B.,
RefAuthors Niemeyer, C., Belohradsky, B.H., Meindl, A.
RefTitle Epstein-barr virus-negative boys with non-hodgkin
RefTitle lymphoma are mutated in the SH2D1A gene, as are patients
RefTitle with X-linked lymphoproliferative disease (XLP)
RefLoc Human Molecular Genetics 8:2407-2413 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62952
Feature /change: t -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 599
Feature /codon: tat -> taa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 100
Feature /change: Y -> X
Symptoms Classical XLP
Sex XY
Ethnic origin spain
Age at death 5; Cause: infectious mononucleosis
Family history Inherited
Relative SH2D1A; A0032 brother
Comment -!-Family history: 4 brothers with fatal infectious
Comment -!-Family history: mononucleosis
Comment -!-Symptoms: infectious mononucleosis, EBV serology
//
ID Y100X(1b); standard; MUTATION; SH2
Accession A0032
Original code 03b
Description Nonsense mutation in the exon 3
Date 11-Jan-2000 (Rel. 1, Created)
Date 11-Jan-2000 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10556288
RefAuthors Brandau, O., Schuster, V., Weiss, M., Hellebrand, H.,
RefAuthors Fink, F.M., Kreczy, A., Friedrich, W., Strahm, B.,
RefAuthors Niemeyer, C., Belohradsky, B.H., Meindl, A.
RefTitle Epstein-barr virus-negative boys with non-hodgkin
RefTitle lymphoma are mutated in the SH2D1A gene, as are patients
RefTitle with X-linked lymphoproliferative disease (XLP)
RefLoc Human Molecular Genetics 8:2407-2413 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62952
Feature /change: t -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 599
Feature /codon: tat -> taa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 100
Feature /change: Y -> X
Symptoms Classical XLP
Sex XY
Ethnic origin spain
Family history Inherited
Relative SH2D1A; A0031 brother
Comment -!-Family history: 4 brothers with fatal infectious
Comment -!-Family history: mononucleosis
Comment -!-Symptoms: infectious mononucleosis, EBV serology,
Comment -!-Symptoms: elevated IgM dysgammaglobulinemia
Comment -!-Symptoms: stem cell transplantation planned
//
ID P101L(1); standard; MUTATION; SH2
Accession A0018
Original code 7
Description Point mutation in the exon 3 leading to amino acid change
Description in the SH2 domain
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9771704
RefAuthors Coffey, A.J., Brooksbank, R.A., Brandau, O., Oohashi, T.,
RefAuthors Howell, G.R., Bye, J.M., Cahn, A.P., Durham, J., Heath,
RefAuthors P., Wray, P., Pavitt, R., Wilkinson, J., Leversha, M.,
RefAuthors Huckle, E., Shaw-Smith, C.J., Dunham, A., Rhodes, S.,
RefAuthors Schuster, V., Porta, G., Yin, L., Serafini, P., Sylla, B.,
RefAuthors Zollo, M., Franco, B., Bolino, A., Seri, A., Lanyi, A.,
RefAuthors Davis, J.R., Webster, D., Harris, A., Lenoir, G., de St
RefAuthors Basile, G., Jones, A., Behloradsky, B.H., Achhatz, H.,
RefAuthors Murgen, J., Fassler, R., Sumegi, J., Romeo, G., Vaudin,
RefAuthors M., Ross, M.T., Meindl, A., Bentley, D.R.
RefTitle Host response to EBV infection in X-linked
RefTitle lymphoproliferative disease results from mutations in an
RefTitle SH2-domain encoding gene
RefLoc Nature Genetics 20:129-135 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62954
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:3153107; HSDSHP: 601
Feature /codon: cca -> cta; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 101
Feature /change: P -> L
Feature /domain: SH2
Symptoms Classical XLP
Sex XY
Family history De novo
//
ID V102G(1); standard; MUTATION; SH2
Accession A0071
Description Missense mutation in the exon 3
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62957
Feature /change: t -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078: 604
Feature /codon: gtt -> ggt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 102
Feature /change: V -> G
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Family history: an affected male in the K062
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis
//
ID @X129X141(1); standard; MUTATION; C-term
Accession A0019
Original code 6
Description Mutation at the exon 4 changing the stop codon to arginine
Description codon and insertion of 12 residues
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9771704
RefAuthors Coffey, A.J., Brooksbank, R.A., Brandau, O., Oohashi, T.,
RefAuthors Howell, G.R., Bye, J.M., Cahn, A.P., Durham, J., Heath,
RefAuthors P., Wray, P., Pavitt, R., Wilkinson, J., Leversha, M.,
RefAuthors Huckle, E., Shaw-Smith, C.J., Dunham, A., Rhodes, S.,
RefAuthors Schuster, V., Porta, G., Yin, L., Serafini, P., Sylla, B.,
RefAuthors Zollo, M., Franco, B., Bolino, A., Seri, A., Lanyi, A.,
RefAuthors Davis, J.R., Webster, D., Harris, A., Lenoir, G., de St
RefAuthors Basile, G., Jones, A., Behloradsky, B.H., Achhatz, H.,
RefAuthors Murgen, J., Fassler, R., Sumegi, J., Romeo, G., Vaudin,
RefAuthors M., Ross, M.T., Meindl, A., Bentley, D.R.
RefTitle Host response to EBV infection in X-linked
RefTitle lymphoproliferative disease results from mutations in an
RefTitle SH2-domain encoding gene
RefLoc Nature Genetics 20:129-135 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 64067
Feature /change: t -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: terminator
Feature /loc: EMBL: AL023657; GI:3153107 HSDSHP: 684
Feature /codon: tga -> aga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: post-elongation
Feature /loc: UniProt: O60880; SH21A_HUMAN: 129
Feature /change: X -> RRKIKHLVLY FLX
Feature /domain: C-terminus
Symptoms Classical XLP
Sex XY
Family history De novo
//
ID Intron 1(1); standard; MUTATION; SH2
Accession A0001
Original code A1; IARC724
Description Point mutation in the intron 1 leading to deletion of
Description exon 2 or exon 2 and part of the exon 3
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9774102
RefAuthors Sayos, J., Wu, C., Morra, M., Wang, N., Zhang, X., Allen,
RefAuthors D., van Schaik, S., Notarangelo, L., Geha, R., Roncarolo,
RefAuthors M.G., Oettgen, H., De Vries, J.E., Aversa, G., Terhorst,
RefAuthors C.
RefTitle The X-linked lymphoproliferative-disease gene product SAP
RefTitle regulates signals induced through the co-receptor SLAM
RefTitle Nature 395:462-469 (1998)
RefNumber [2]
RefCrossRef PUBMED; 10598819
RefAuthors Yin, L., Ferrand, V., Lavou�, M-F., Hayoz, D., Philipe, N.,
RefAuthors Souillet, G., Seri, M., Giacchino, R., Castagnola, E.,
RefAuthors Hodgson, S., Sylla B.S., Romeo, G.
RefTitle SH2D1A mutation analysis for diagnosis of XLP in typical
RefTitle and atypical patients
RefLoc Human Genetics 105:501-505 (1999)
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58436
Feature /change: c -> g
Feature /genomic_region: intron; 1
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58436
Feature /change: c -> g
Feature /genomic_region: intron; 1
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: loss of exon sequence; frameshift
Feature /loc: EMBL: AL023657; GI:3153107 HSDSHP: 437..500
Feature /change: -gtatcacggt tacatttata cataccgagt gtcccagaca
Feature /change: gaaacaggtt cttggagtgc tgag
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: loss of exon sequence; frameshift
Feature /loc: EMBL: AL023657; GI:3153107 HSDSHP: 437..555
Feature /change: -gtatcacggt tacatttata cataccgagt gtcccagaca
Feature /change: gaaacaggtt cttggagtgc tgaggtatca cggttacatt
Feature /change: tatacatacc gagtgtccca gacagaaaca ggttcttgga
Feature /change: gtgctgagac agcacctggg gtacataaaa gatatttccg
Feature /change: gaaaataaaa aatctcattt cag
Feature aa; 5
Feature /rnalink: 3
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 47
Feature /change: Y -> QHLGYIKDISGKX
Feature /domain: SH2
Feature aa; 6
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 47
Feature /change: Y -> ISEARYRHCNTSAVSSX
Feature /domain: SH2
Protein struct Splice defect
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Symptoms: hypogammaglobulinemia, recurrent pulmonary
Comment -!-Symptoms: infections, severe EBV-induced mononcleosis
//
ID Intron 1(2); standard; MUTATION; SH2
Accession A0033
Original code 01
Description Point mutation affecting intron 1
Date 14-Dec-1999 (Rel. 1, Created)
Date 14-Dec-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10556288
RefAuthors Brandau, O., Schuster, V., Weiss, M., Hellebrand, H.,
RefAuthors Fink, F.M., Kreczy, A., Friedrich, W., Strahm, B.,
RefAuthors Niemeyer, C., Belohradsky, B.H., Meindl, A.
RefTitle Epstein-barr virus-negative boys with non-hodgkin
RefTitle lymphoma are mutated in the SH2D1A gene, as are patients
RefTitle with X-linked lymphoproliferative disease (XLP)
RefLoc Human Molecular Genetics 8:2407-2413 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39458
Feature /change: g -> a
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Protein struct Splice defect
Symptoms Classical XLP
Sex XY
Age 10
Family history Inherited
Comment -!-Family history: 2 brothers with fatal infectious
Comment -!-Family history: mononucleosis
Comment -!-Symptoms: infectious mononucleosis, EBV serology,
Comment -!-Symptoms: anemia, hypogammaglobulinemia, stable under
Comment -!-Symptoms: i.v. immunoglobulins
//
ID Intron 1(3); standard; MUTATION; SH2
Accession A0041
Original code IARC1424
Description Point mutation affecting intron 1
Date 14-Dec-1999 (Rel. 1, Created)
Date 14-Dec-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10598819
RefAuthors Yin, L., Ferrand, V., Lavou�, M-F., Hayoz, D., Philipe, N.,
RefAuthors Souillet, G., Seri, M., Giacchino, R., Castagnola, E.,
RefAuthors Hodgson, S., Sylla B.S., Romeo, G.
RefTitle SH2D1A mutation analysis for diagnosis of XLP in typical
RefTitle and atypical patients
RefLoc Human Genetics 105:501-505 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39458
Feature /change: g -> a
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Protein struct Splice defect
Symptoms Classical XLP
Sex XY
Family history Inherited
//
ID Intron 1(4); confidental; MUTATION; SH2
Accession A0048
Original code B
Description Point mutation affecting intron 1
Date 12-Jan-2000 (Rel. 1, Created)
Date 03-Oct-2000 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10694488
RefAuthors Lappalainen, I., Giliani, S., Franceschini, R.,
RefAuthors Bonnefoy, J.Y., Duckett, C., Notarangelo, L.D., Vihinen, M.
RefTitle Structural basis for SH2D1A mutations in X-linked
RefTitle lymphoproliferative disease
RefLoc Biochem Biophys Res Commun 269:124-130 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39458
Feature /change: g -> a
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Protein struct Splice defect
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Family history: had an maternal uncle who died with
Comment -!-Family history: aplastic anemia following EBV infection
Comment -!-Symptoms: died at 7 years of non-Hodgkin lymphoma
//
ID Intron 1(5); standard; MUTATION; SH2
Accession A0133
Systematic name g.IVS1-2A>C, c.138-2A>C, r.
Original code P1
Description A point mutation in the intron 1 leading to aberrant
Description splicing of exon 2
Date 13-Jun-2007 (Rel. 1, Created)
Date 13-Jun-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15632210
RefAuthors Tabata, Y., Villanueva, J., Lee, S. M., Zhang, K.,
RefAuthors Kanegane, H., Miyawaki, T., Sumegi, J., Filipovich, A. H.
RefTitle Rapid detection of intracellular SH2D1A protein in
RefTitle cytotoxic lymphocytes from patients with X-linked
RefTitle lymphoproliferative disease and their family members.
RefLoc Blood:3066-3071 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58437
Feature /change: a -> c
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Protein level Much reduced
Diagnosis X-linked lymphoproliferative syndrome
Age 0.5
Family history Inherited
//
ID Intron 1(6); standard; MUTATION; SH2
Accession A0134
Systematic name g.IVS1-2A>G, c.138-2A>G, r.
Original code P3
Description A point mutation in the intron 1 leading to aberrant
Description splicing of exon 2
Date 13-Jun-2007 (Rel. 1, Created)
Date 13-Jun-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15632210
RefAuthors Tabata, Y., Villanueva, J., Lee, S. M., Zhang, K.,
RefAuthors Kanegane, H., Miyawaki, T., Sumegi, J., Filipovich, A. H.
RefTitle Rapid detection of intracellular SH2D1A protein in
RefTitle cytotoxic lymphocytes from patients with X-linked
RefTitle lymphoproliferative disease and their family members.
RefLoc Blood:3066-3071 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58437
Feature /change: a -> g
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Protein level Much reduced
Diagnosis X-linked lymphoproliferative syndrome
Symptoms Hypogammaglobulinemia
Age 12
//
ID Intron 2(1a); standard; MUTATION; SH2
Accession A0034
Original code 09a
Description Point mutation affecting intron 2
Date 14-Dec-1999 (Rel. 1, Created)
Date 14-Dec-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10556288
RefAuthors Brandau, O., Schuster, V., Weiss, M., Hellebrand, H.,
RefAuthors Fink, F.M., Kreczy, A., Friedrich, W., Strahm, B.,
RefAuthors Niemeyer, C., Belohradsky, B.H., Meindl, A.
RefTitle Epstein-barr virus-negative boys with non-hodgkin
RefTitle lymphoma are mutated in the SH2D1A gene, as are patients
RefTitle with X-linked lymphoproliferative disease (XLP)
RefLoc Human Molecular Genetics 8:2407-2413 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62853
Feature /change: g -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Protein struct Splice defect
Symptoms Classical XLP
Sex XY
Family history Inherited
Relative SH2D1A; A0035; brother
Comment -!-Symptoms: infectious mononucleosis, EBV serology,
Comment -!-Symptoms: anemia dysgammaglobulinemia, died at the age
Comment -!-Symptoms: of one after chemotherapy for
Comment -!-Symptoms: virus-associated haemophagocytic syndrome
//
ID Intron 2(1b); standard; MUTATION; SH2
Accession A0035
Original code 09b
Description Point mutation affecting intron 2
Date 14-Dec-1999 (Rel. 1, Created)
Date 14-Dec-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10556288
RefAuthors Brandau, O., Schuster, V., Weiss, M., Hellebrand, H.,
RefAuthors Fink, F.M., Kreczy, A., Friedrich, W., Strahm, B.,
RefAuthors Niemeyer, C., Belohradsky, B.H., Meindl, A.
RefTitle Epstein-barr virus-negative boys with non-hodgkin
RefTitle lymphoma are mutated in the SH2D1A gene, as are patients
RefTitle with X-linked lymphoproliferative disease (XLP)
RefLoc Human Molecular Genetics 8:2407-2413 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62853
Feature /change: g -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Protein struct Splice defect
Symptoms Classical XLP
Sex XY
Age 2
Family history Inherited
Relative SH2D1A; A0034; brother
Comment -!-Symptoms: anemia, dysgammaglobulinemia, stable under
Comment -!-Symptoms: chemotherapy NHL lymphoma
//
ID Intron 2(2); standard; MUTATION; SH2
Accession A0042
Original code XLP-K
Description Point mutation affecting intron 2
Date 14-Dec-1999 (Rel. 1, Created)
Date 14-Dec-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10598819
RefAuthors Yin, L., Ferrand, V., Lavou�, M-F., Hayoz, D., Philipe, N.,
RefAuthors Souillet, G., Seri, M., Giacchino, R., Castagnola, E.,
RefAuthors Hodgson, S., Sylla B.S., Romeo, G.
RefTitle SH2D1A mutation analysis for diagnosis of XLP in typical
RefTitle and atypical patients
RefLoc Human Genetics 105:501-505 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58503
Feature /change: g -> a
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Protein struct Splice defect
Symptoms Classical XLP
Sex XY
Family history Inherited
//
ID Intron 2(3); standard; MUTATION; SH2
Accession A0135
Systematic name g.IVS2+3A>G, c.201+3A>G, r.201+3a>g
Original code P4
Description A point mutation in the intron 2 leading to aberrant
Description splicing of exon 2
Date 13-Jun-2007 (Rel. 1, Created)
Date 13-Jun-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15632210
RefAuthors Tabata, Y., Villanueva, J., Lee, S. M., Zhang, K.,
RefAuthors Kanegane, H., Miyawaki, T., Sumegi, J., Filipovich, A. H.
RefTitle Rapid detection of intracellular SH2D1A protein in
RefTitle cytotoxic lymphocytes from patients with X-linked
RefTitle lymphoproliferative disease and their family members.
RefLoc Blood:3066-3071 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58505
Feature /change: a -> g
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +3
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Protein level Reduced
Diagnosis X-linked lymphoproliferative syndrome
Age 23
Comment 2 differently spliced transcripts detected in patient T
Comment cells. Significantly decreased SAP expression in CD56+ T
Comment cells and NK cells but a small positive peak in CD8+ T
Comment cells.
//
ID Intron 2(4); standard; MUTATION; SH2
Accession A0136
Systematic name g.IVS2-1G>, c.202-1G>, r.202_204del
Original code HX
Description A deletion in the intron 2 leading to aberrant splicing
Date 13-Jun-2007 (Rel. 1, Created)
Date 13-Jun-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12224001
RefAuthors Parolini, O., Kagerbauer, B., Simonitsch-Klupp, I.,
RefAuthors Ambros, P., Jaeger, U., Mann, G., Haas, O. A., Morra, M.,
RefAuthors Gadner, H., Terhorst, C., Knapp, W., Holter, W.
RefTitle Analysis of SH2D1A mutations in patients with severe
RefTitle epstein-barr virus infections, burkitt's lymphoma, and
RefTitle hodgkin's lymphoma.
RefLoc Ann Hematol:441-447 (2002)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 62853
Feature /change: -g
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Diagnosis X-linked lymphoproliferative syndrome
Symptoms Infectious mononucleosis
Sex XY
Family history Inherited
//
ID Intron 3(2); standard; MUTATION; SH2
Accession A0132
Systematic name g.IVS3-32ATTTT>, c.347-32ATTTT>, r.347-32_347-1ins
Original code P6
Description A deletion in the intron 3 leading to an amino acid change
Description in the SH2 domain
Date 13-Jun-2007 (Rel. 1, Created)
Date 13-Jun-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10898506
RefAuthors Gilmour, K. C., Cranston, T., Jones, A., Davies, E. G.,
RefAuthors Goldblatt, D., Thrasher, A., Kinnon, C., Nichols, K. E.,
RefAuthors Gaspar, H. B.
RefTitle Diagnosis of X-linked lymphoproliferative disease by
RefTitle analysis of SLAM-associated protein expression.
RefLoc Eur J Immunol:1691-1697 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 63997..64001
Feature /change: -atttt
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -32
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
mRNA level Absent
Protein level Absent
Diagnosis Atypical phenotype
Symptoms Hypogammaglobulinemia, variable B and T cell abnormalities
Sex XY
Family history De novo
Comment The deletion is suggested to affect the splicing branch
Comment point and lead to an unstable mRNA product resulting in
Comment lack of SAP expression
//
ID Deletion (1a); standard; MUTATION; GROSS
Accession A0002
Original code B1
Description Deletion of the entire SH2D1A
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9774102
RefAuthors Sayos, J., Wu, C., Morra, M., Wang, N., Zhang, X., Allen,
RefAuthors D., van Schaik, S., Notarangelo, L., Geha, R., Roncarolo,
RefAuthors M.G., Oettgen, H., De Vries, J.E., Aversa, G., Terhorst,
RefAuthors C.
RefTitle The X-linked lymphoproliferative-disease gene product SAP
RefTitle regulates signals induced through the co-receptor SLAM
RefTitle Nature 395:462-469 (1998)
Protein struct Large deletion
Symptoms Classical XLP
Sex XY
Age 23
Family history Inherited
Relative SH2D1A; A0003; brother
Comment -!-Family history: also a healthy brother and two other
Comment -!-Family history: brothers with classical XLP
Comment -!-Symptoms: dysgammaglobulinemia with raised IgA and IgM,
Comment -!-Symptoms: pulmonary infections, pneumonia, hilar
Comment -!-Symptoms: adenopathy which progressed to fulminant
Comment -!-Symptoms: infectious mononucleosis with
Comment -!-Symptoms: haemophagocytosis, EBV-infection, depressed
Comment -!-Symptoms: T-cell proliferative responses to mitogens
//
ID Deletion (1b); standard; MUTATION; GROSS
Accession A0003
Original code B2
Description Deletion of the entire SH2D1A
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9774102
RefAuthors Sayos, J., Wu, C., Morra, M., Wang, N., Zhang, X., Allen,
RefAuthors D., van Schaik, S., Notarangelo, L., Geha, R., Roncarolo,
RefAuthors M.G., Oettgen, H., De Vries, J.E., Aversa, G., Terhorst,
RefAuthors C.
RefTitle The X-linked lymphoproliferative-disease gene product SAP
RefTitle regulates signals induced through the co-receptor SLAM
RefTitle Nature 395:462-469 (1998)
Protein struct Large deletion
Symptoms Classical XLP
Sex XY
Family history Inherited
Relative SH2D1A; A0002; brother
Comment -!-Family history: also a healthy brother and two other
Comment -!-Family history: brothers with classical XLP
Comment -!-Symptoms: pancytopaenia, splenomegaly,
Comment -!-Symptoms: dysgammaglobulinemia, depressed T-cell
Comment -!-Symptoms: proliferative responses to mitogens
//
ID Deletion (2); standard; MUTATION; GROSS
Accession A0008
Original code A
Description Deletion of 3 Mb spanning the entire XLP locus
Date 16-Nov-1999 (Rel. 1, Created)
Date 16-Nov-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9811875
RefAuthors Nichols, K.E., Harkin, D.P., Levitz, S., Krainer, M.,
RefAuthors Kolquist, K.A., Genovese, C., Bernard, A., Ferguson, M.,
RefAuthors Zuo, L., Snyder, E., Buckler, A.J., Wise, C., Ashley, J.,
RefAuthors Lovett, M., Valentine, M.B., Look, A.T., Gerald, W.,
RefAuthors Housman, D.E., Haber, D.A.
RefTitle Inactivating mutations in an SH2 domain-encoding gene in
RefTitle X-linked lymphoproliferative syndrome
RefLoc Proc. Natl. Acad. Sci. USA 95:13765-13770 (1998)
Protein struct Large deletion
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Symptoms: fulminant IM, EBV-associated lymphoma
Comment -!-Symptoms: or hypogammaglobulinemia
//
ID Deletion (3); standard; MUTATION; GROSS
Accession A0009
Original code R
Description Deletion of 200 kb after exon 1
Date 16-Nov-1999 (Rel. 1, Created)
Date 16-Nov-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9811875
RefAuthors Nichols, K.E., Harkin, D.P., Levitz, S., Krainer, M.,
RefAuthors Kolquist, K.A., Genovese, C., Bernard, A., Ferguson, M.,
RefAuthors Zuo, L., Snyder, E., Buckler, A.J., Wise, C., Ashley, J.,
RefAuthors Lovett, M., Valentine, M.B., Look, A.T., Gerald, W.,
RefAuthors Housman, D.E., Haber, D.A.
RefTitle Inactivating mutations in an SH2 domain-encoding gene in
RefTitle X-linked lymphoproliferative syndrome
RefLoc Proc. Natl. Acad. Sci. USA 95:13765-13770 (1998)
Protein struct Large deletion
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Symptoms: fulminant IM, EBV-associated lymphoma
Comment -!-Symptoms: or hypogammaglobulinemia
//
ID Deletion (4a); standard; MUTATION; GROSS
Accession A0010
Original code AD
Description Deletion of 200 kb leading to deletion of the entire
Description SH2D1A gene
Date 16-Nov-1999 (Rel. 1, Created)
Date 16-Nov-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9811875
RefAuthors Nichols, K.E., Harkin, D.P., Levitz, S., Krainer, M.,
RefAuthors Kolquist, K.A., Genovese, C., Bernard, A., Ferguson, M.,
RefAuthors Zuo, L., Snyder, E., Buckler, A.J., Wise, C., Ashley, J.,
RefAuthors Lovett, M., Valentine, M.B., Look, A.T., Gerald, W.,
RefAuthors Housman, D.E., Haber, D.A.
RefTitle Inactivating mutations in an SH2 domain-encoding gene in
RefTitle X-linked lymphoproliferative syndrome
RefLoc Proc. Natl. Acad. Sci. USA 95:13765-13770 (1998)
Protein struct Large deletion
Symptoms Classical XLP
Sex XY
Family history Inherited
Relative SH2D1A; A0011; brother
Relative SH2D1A; A0012; brother
Comment -!-Symptoms: fulminant IM, EBV-associated lymphoma
Comment -!-Symptoms: or hypogammaglobulinemia
//
ID Deletion (4b); standard; MUTATION; GROSS
Accession A0011
Description Deletion of 200 kb leading to deletion of the entire
Description SH2D1A gene
Date 16-Nov-1999 (Rel. 1, Created)
Date 16-Nov-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9811875
RefAuthors Nichols, K.E., Harkin, D.P., Levitz, S., Krainer, M.,
RefAuthors Kolquist, K.A., Genovese, C., Bernard, A., Ferguson, M.,
RefAuthors Zuo, L., Snyder, E., Buckler, A.J., Wise, C., Ashley, J.,
RefAuthors Lovett, M., Valentine, M.B., Look, A.T., Gerald, W.,
RefAuthors Housman, D.E., Haber, D.A.
RefTitle Inactivating mutations in an SH2 domain-encoding gene in
RefTitle X-linked lymphoproliferative syndrome
RefLoc Proc. Natl. Acad. Sci. USA 95:13765-13770 (1998)
Protein struct Large deletion
Symptoms Classical XLP
Sex XY
Family history Inherited
Relative SH2D1A; A0010 brother
Relative SH2D1A; A0012 brother
Comment -!-Symptoms: atypival lymphoproliferative process with
Comment -!-Symptoms: infiltration of lungs, liver, spleen and
Comment -!-Symptoms: colon
//
ID Deletion (4c); standard; MUTATION; GROSS
Accession A0012
Description Deletion of 200 kb leading to deletion of the entire
Description SH2D1A gene
Date 16-Nov-1999 (Rel. 1, Created)
Date 16-Nov-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9811875
RefAuthors Nichols, K.E., Harkin, D.P., Levitz, S., Krainer, M.,
RefAuthors Kolquist, K.A., Genovese, C., Bernard, A., Ferguson, M.,
RefAuthors Zuo, L., Snyder, E., Buckler, A.J., Wise, C., Ashley, J.,
RefAuthors Lovett, M., Valentine, M.B., Look, A.T., Gerald, W.,
RefAuthors Housman, D.E., Haber, D.A.
RefTitle Inactivating mutations in an SH2 domain-encoding gene in
RefTitle X-linked lymphoproliferative syndrome
RefLoc Proc. Natl. Acad. Sci. USA 95:13765-13770 (1998)
Protein struct Large deletion
Symptoms Classical XLP
Sex XY
Family history Inherited
Relative SH2D1A; A0010 brother
Relative SH2D1A; A0011 brother
Comment -!-Symptoms: atypical pulmonary infiltrate resembling
Comment -!-Symptoms: Wegener's granulomamosis
//
ID Deletion (5); standard; MUTATION; GROSS
Accession A0026
Original code 30-011
Description Deletion of 250 kb leading to deletion of the entire
Description SH2D1A gene
Date 16-Nov-1999 (Rel. 1, Created)
Date 16-Nov-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9027486
RefAuthors Lanyi, A., Li, B., Li, S., Talmadge, C.B., Brichacek, B.,
RefAuthors Davis, J.R., Kozel, B.A., Trask, B., van den Engh, G.,
RefAuthors Uzvolgyi, E., Stanbridge, E.J., Nelson, D.L., Chinault,
RefAuthors C., Heslop, H., Gross, T.G., Seemayer, T.A., Klein, G.,
RefAuthors Purtilo, D.T., Sumegi, J.
RefTitle A yeast artificial chromosome (YAC) contig encompassing
RefTitle the critical region of the X-linked lymphoproliferative
RefTitle disease (XLP) locus
RefLoc Genomics 39:55-65 (1997)
Protein struct Large deletion
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Symptoms: malignant lymphoma, hypogammaglobulinemia
//
ID Deletion (6); standard; MUTATION; GROSS
Accession A0027
Original code 43-004
Description Deletion of 3 Mb leading to deletion of the entire XLP
Description locus
Date 16-Nov-1999 (Rel. 1, Created)
Date 16-Nov-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9027486
RefAuthors Lanyi, A., Li, B., Li, S., Talmadge, C.B., Brichacek, B.,
RefAuthors Davis, J.R., Kozel, B.A., Trask, B., van den Engh, G.,
RefAuthors Uzvolgyi, E., Stanbridge, E.J., Nelson, D.L., Chinault,
RefAuthors C., Heslop, H., Gross, T.G., Seemayer, T.A., Klein, G.,
RefAuthors Purtilo, D.T., Sumegi, J.
RefTitle A yeast artificial chromosome (YAC) contig encompassing
RefTitle the critical region of the X-linked lymphoproliferative
RefTitle disease (XLP) locus
RefLoc Genomics 39:55-65 (1997)
Protein struct Large deletion
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Symptoms: malignant lymphoma, hypogammaglobulinemia
//
ID Deletion (7); standard; MUTATION; GROSS
Accession A0028
Original code 63-003
Description Deletion of 3 Mb leading to deletion of the entire XLP
Description locus
Date 16-Nov-1999 (Rel. 1, Created)
Date 16-Nov-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9027486
RefAuthors Lanyi, A., Li, B., Li, S., Talmadge, C.B., Brichacek, B.,
RefAuthors Davis, J.R., Kozel, B.A., Trask, B., van den Engh, G.,
RefAuthors Uzvolgyi, E., Stanbridge, E.J., Nelson, D.L., Chinault,
RefAuthors C., Heslop, H., Gross, T.G., Seemayer, T.A., Klein, G.,
RefAuthors Purtilo, D.T., Sumegi, J.
RefTitle A yeast artificial chromosome (YAC) contig encompassing
RefTitle the critical region of the X-linked lymphoproliferative
RefTitle disease (XLP) locus
RefLoc Genomics 39:55-65 (1997)
Protein struct Large deletion
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Symptoms: malignant lymphoma, hypogammaglobulinemia
//
ID Deletion (8); standard; MUTATION; GROSS
Accession A0029
Original code 73-032
Description Deletion of 3 Mb leading to deletion of the entire XLP
Description locus
Date 16-Nov-1999 (Rel. 1, Created)
Date 16-Nov-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9027486
RefAuthors Lanyi, A., Li, B., Li, S., Talmadge, C.B., Brichacek, B.,
RefAuthors Davis, J.R., Kozel, B.A., Trask, B., van den Engh, G.,
RefAuthors Uzvolgyi, E., Stanbridge, E.J., Nelson, D.L., Chinault,
RefAuthors C., Heslop, H., Gross, T.G., Seemayer, T.A., Klein, G.,
RefAuthors Purtilo, D.T., Sumegi, J.
RefTitle A yeast artificial chromosome (YAC) contig encompassing
RefTitle the critical region of the X-linked lymphoproliferative
RefTitle disease (XLP) locus
RefLoc Genomics 39:55-65 (1997)
Protein struct Large deletion
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Symptoms: malignant lymphoma, hypogammaglobulinemia
//
ID Deletion (9); standard; MUTATION; GROSS
Accession A0043
Original code IARC739
Description Deletion of the whole gene
Date 12-Jan-2000 (Rel. 1, Created)
Date 12-Jan-2000 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10598819
RefAuthors Yin, L., Ferrand, V., Lavou�, M-F., Hayoz, D., Philipe, N.,
RefAuthors Souillet, G., Seri, M., Giacchino, R., Castagnola, E.,
RefAuthors Hodgson, S., Sylla B.S., Romeo, G.
RefTitle SH2D1A mutation analysis for diagnosis of XLP in typical
RefTitle and atypical patients
RefLoc Human Genetics 105:501-505 (1999)
Protein struct Large deletion
Symptoms Classical XLP
Protein struct large deletion
Sex XY
Family history Inherited
//
ID Deletion (10); standard; MUTATION; GROSS
Accession A0044
Original code XLP-G
Description Deletion of the whole gene
Date 12-Jan-2000 (Rel. 1, Created)
Date 12-Jan-2000 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10598819
RefAuthors Yin, L., Ferrand, V., Lavou�, M-F., Hayoz, D., Philipe, N.,
RefAuthors Souillet, G., Seri, M., Giacchino, R., Castagnola, E.,
RefAuthors Hodgson, S., Sylla B.S., Romeo, G.
RefTitle SH2D1A mutation analysis for diagnosis of XLP in typical
RefTitle and atypical patients
RefLoc Human Genetics 105:501-505 (1999)
Protein struct Large deletion
Symptoms Classical XLP
Protein struct large deletion
Sex XY
Family history Inherited
//
ID Deletion (11); standard; MUTATION; GROSS
Accession A0076
Description 3.5 Mb DNA deletion at Xq25 including SH2D1A gene
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Comment -!-Family history: an affected male in the K043
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: dysgammaglobulinemia
//
ID Deletion (12); standard; MUTATION; GROSS
Accession A0077
Description 3.5 Mb DNA deletion at Xq25 including SH2D1A gene
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Comment -!-Family history: 3 other affected males in the K063
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis
Comment -!-Symptoms: lymphoproliferative disorders
//
ID Deletion (13); standard; MUTATION; GROSS
Accession A0078
Description 3.5 Mb DNA deletion at Xq25 including SH2D1A gene
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Comment -!-Family history: 3 other affected males in the K073
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: lymphoproliferative disorders
//
ID Deletion (14); standard; MUTATION; GROSS
Accession A0079
Description Deletion of the 1-4 exons
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Comment -!-Family history: 2 other affected males in the Ado1
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis
//
ID Deletion (15); standard; MUTATION; GROSS
Accession A0080
Description Deletion of the 1-4 exons
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Comment -!-Family history: 2 other affected males in the K051
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: dysgammaglobulinemia
//
ID Deletion (16); standard; MUTATION; GROSS
Accession A0081
Description Deletion of 89 bp from the intron 1 and deletion of exon 2 and
Description intron 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Comment -!-Family history: 4 other affected males in the K055
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: lymphoproliferative disorders,
Comment -!-Symptoms: aplastic anemia,
Comment -!-Symptoms: dysgammaglobulinemia
//
ID Deletion (17); standard; MUTATION; GROSS
Accession A0082
Description Deletion of 159 bp from the exon 2 at 448 and the
Description intron 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Comment -!-Family history: 3 other affected males in the K060
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: lymphoproliferative disorders,
Comment -!-Symptoms: dysgammaglobulinemia
//
ID Deletion (18); standard; MUTATION; GROSS
Accession A0086
Original code HLH-PZ
Description Deletion of exon 1 and part of the 5' regulatory sequences
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11159547
RefAuthors Arico, M., Imashuku, S., Clementi, R., Hibi, S, Teramura,
RefAuthors T., damesino, C., Haber, D. A. and Nichols, K. E.
RefTitle Hemophagocytic lymphohistiocytic due to germline mutations
RefTitle in SH2D1A, the X-linked lymphoproliferative disease
RefTitle gene
RefLoc Blood, 97: 1131-1133 (2001)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Ethnic origin italy
Family history Sporadic
Comment -!-Symptoms: hemophagocytic lymphocytosis
//
ID Deletion (19); standard; MUTATION; GROSS
Accession A0087
Original code HLH-OT
Description Deletion of exon 1 and 5' regulatory sequences
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11159547
RefAuthors Arico, M., Imashuku, S., Clementi, R., Hibi, S, Teramura,
RefAuthors T., damesino, C., Haber, D. A. and Nichols, K. E.
RefTitle Hemophagocytic lymphohistiocytic due to germline mutations
RefTitle in SH2D1A, the X-linked lymphoproliferative disease
RefTitle gene
RefLoc Blood, 97: 1131-1133 (2001)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Ethnic origin italy
Family history Inherited
Comment -!-Symptoms: hemophagocytic lymphocytosis
Comment -!- diagnosed brother with hemophagocytosis at 11 months
//
ID Deletion (20); standard; MUTATION; GROSS
Accession A0097
Original code 4
Description Deletion of exons 1-4
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10814994
RefAuthors Honda K, Kanegane H, Eguchi M, Kimura H, Morishima T,
RefAuthors Masaki K, Tosato G, Miyawaki T, Ishii E.
RefTitle Large deletion of the X-linked lymphoproliferative disease
RefTitle gene detected by fluorescence in situ hybridization
RefLoc Am J Hematol 64:128-32 (2000)
RefNumber [2]
RefCrossRef PUBMED; 11493483
RefAuthors Sumazaki, R., Kanegane, H., Osaki, M., Fukushima, T.,
RefAuthors Tsuchida, M., Matsukura, H., Shinozaki, K., Kimura, H.,
RefAuthors Matsui, A., Miyawaki, T.
RefTitle SH2D1A mutations in Japanese males with severe
RefTitle Epstain-Barr virus-associated illnesses
RefLoc Blood 98:1268-1270 (2001)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Ethnic origin japanese
Family history Inherited
Comment -!-Family history: carrier mother; ref [1]
Comment -!-Clinical history: died after 21 days
Comment -!-Symptoms: fulminant infectious mononucleosis
//
ID Deletion (21); standard; MUTATION; SH2
Accession A0072
Original code Intron 1(5)
Description 3prime ACAGgtACCGgt causing skipping of the exon 2
Date 09-Jul-2001 (Rel. 1, Created)
Date 23-Mar-2006 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Comment -!-Family history: 6 other affected males in the K008
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: lymphoproliferative disorders
//
ID Deletion (22); standard; MUTATION; SH2
Accession A0073
Original code Intron 1(6)
Description 5' ctGTGA>ctGCGA truncation of protein
Date 09-Jul-2001 (Rel. 1, Created)
Date 23-Mar-2006 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Comment -!-Family history: an affected male in the K048
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: lymphoproliferative disorders
//
ID Deletion (23); standard; MUTATION; SH2
Accession A0074
Original code Intron 2(3)
Description 5' agGTAT>agATAT truncation of protein
Date 09-Jul-2001 (Rel. 1, Created)
Date 23-Mar-2006 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Comment -!-Family history: 6 other affected males in the K065
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: dysgammaglobulinemia
//
ID Deletion (24); standard; MUTATION; SH2
Accession A0075
Original code Intron 2(4)
Description 7 bp deletion in the first intron (intron 1?)
Date 09-Jul-2001 (Rel. 1, Created)
Date 23-Mar-2006 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Comment -!-Family history: an other affected male in the K080
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: dysgammaglobulinemia
//
ID Deletion (25a); standard; MUTATION; GROSS
Accession A0130
Description Deletion of the exons 3-4
Date 12-Jun-2007 (Rel. 2, Created)
Date 12-Jun-2007 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 12356686
RefAuthors Shinozaki, K., Kanegane, H., Matsukura, H., Sumazaki, R.,
RefAuthors Tsuchida, M., Makita, M., Kimoto, Y., Kanai, R., Tsumura,
RefAuthors K., Kondoh, T., Moriuchi, H., Miyawaki, T.
RefTitle Activation-dependent T cell expression of the X-linked
RefTitle lymphoproliferative disease gene product SLAM-associated
RefTitle protein and its assessment for patient detection.
RefLoc Int Immunol:1215-1223 (2002)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Relative SH2D1A; A0131; brother
Comment -!-Symptoms: cervical lymphadenopathy, hepatosplenomegaly,
Comment -!-Symptoms: pimary EBV infection, lymphocytosis
Comment -!-Clinical history: died 53 days after admission
//
ID Deletion (25b); standard; MUTATION; GROSS
Accession A0131
Description Deletion of the exons 3-4
Date 12-Jun-2007 (Rel. 2, Created)
Date 12-Jun-2007 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 12356686
RefAuthors Shinozaki, K., Kanegane, H., Matsukura, H., Sumazaki, R.,
RefAuthors Tsuchida, M., Makita, M., Kimoto, Y., Kanai, R., Tsumura,
RefAuthors K., Kondoh, T., Moriuchi, H., Miyawaki, T.
RefTitle Activation-dependent T cell expression of the X-linked
RefTitle lymphoproliferative disease gene product SLAM-associated
RefTitle protein and its assessment for patient detection.
RefLoc Int Immunol:1215-1223 (2002)
Protein struct Large deletion
Sex XY
Family history Inherited
Relative SH2D1A; A0130; brother
//
ID Upstream (1); standard; MUTATION; UPDOW
Accession A0022
Original code 9
Description Mutation in the potential CCAAT box
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9771704
RefAuthors Coffey, A.J., Brooksbank, R.A., Brandau, O., Oohashi, T.,
RefAuthors Howell, G.R., Bye, J.M., Cahn, A.P., Durham, J., Heath,
RefAuthors P., Wray, P., Pavitt, R., Wilkinson, J., Leversha, M.,
RefAuthors Huckle, E., Shaw-Smith, C.J., Dunham, A., Rhodes, S.,
RefAuthors Schuster, V., Porta, G., Yin, L., Serafini, P., Sylla, B.,
RefAuthors Zollo, M., Franco, B., Bolino, A., Seri, A., Lanyi, A.,
RefAuthors Davis, J.R., Webster, D., Harris, A., Lenoir, G., de St
RefAuthors Basile, G., Jones, A., Behloradsky, B.H., Achhatz, H.,
RefAuthors Murgen, J., Fassler, R., Sumegi, J., Romeo, G., Vaudin,
RefAuthors M., Ross, M.T., Meindl, A., Bentley, D.R.
RefTitle Host response to EBV infection in X-linked
RefTitle lymphoproliferative disease results from mutations in an
RefTitle SH2-domain encoding gene
RefLoc Nature Genetics 20:129-135 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39012
Feature /change: c -> t
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Symptoms Classical XLP
Sex XY
Family history De novo
//
//
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