Database RAG2base
Version 3.3
File rag2pub.html
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/RAG2base/
FTP ftp://protein.uta.fi/pub/rag2pub.dat
IDR factfile http://bioinf.uta.fi/xml/idr/ff/FF3.xml
Gene RAG2
Disease Autosomal recessive RAG2 immunodeficiency
OMIM 179616
GDB 125186
Sequence EMBL:M94633; UniProt:P55895
Numbering Start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
Comments An other related database: RAG1base
//
ID Q16X(1),Q16X(1); standard; MUTATION; I,I
Accession S0025
Systematic name Allele 1 and 2: g.5114C>T, c.46C>T, r.46c>u, p.Gln16X
Original code RAG-SCID 6
Description Allele 1 and 2: a point mutation in the exon 1 leading to a
Description premature stop codon in the I domain
Date 24-Feb-2005 (Rel. 1, Created)
Date 24-Feb-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12200379
RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Verkaik, N. S.,
RefAuthors Vossen, J. M., de Groot, R., Bernatowska, E., Langerak, A.
RefAuthors W., van Gent, D. C., van Dongen, J. J.
RefTitle The immunophenotypic and immunogenotypic B-cell
RefTitle differentiation arrest in bone marrow of RAG-deficient
RefTitle SCID patients corresponds to residual recombination
RefTitle activities of mutated RAG proteins.
RefLoc Blood 100:2145-2152 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5114
Feature /change: c -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1247
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: RAG2_HUMAN: 16
Feature /change: Q -> X
Feature /domain: I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5114
Feature /change: c -> t
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1247
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: RAG2_HUMAN: 16
Feature /change: Q -> X
Feature /domain: I
Diagnosis T and B cell-negative severe combined immunodeficiency
Comment Seemingly homozygous mutation, but deletion of the other
Comment allele was not ruled out.
//
ID G35V(1),G35V(1); standard; MUTATION;
Accession S0016
Systematic name Allele 1 and 2: g.1305G>T, c.1305G>T, p.G35V
Original code P10
Description Allele 1 and 2; missense mutation in the exon 3
Date 21-Mar-2000 (Rel. 1, Created)
Date 21-Mar-2000 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10777560
RefAuthors Corneo, B., Moshous, D., Callebaut, I., de Chasseval, R.,
RefAuthors Fischer, A., de Villartay, J. P.
RefTitle Three-dimensional clustering of human RAG2 gene mutations
RefTitle in severe combined immune deficiency
RefLoc J. Biol. Chem. 275:12672-12675 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: HSRAG2X: 1305
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1305
Feature /codon: ggc -> gtc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P55895; RAG2_HUMAN: 35
Feature /change: G -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG2X: 1305
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1305
Feature /codon: ggc -> gtc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P55895; RAG2_HUMAN: 35
Feature /change: G -> V
Diagnosis T and B cell-negative severe combined immunodeficiency
//
ID G35V(2),G35V(2); standard; MUTATION; I,I
Accession S0031
Systematic name Allele 1 and 2: g.5172G>T, c.104G>T, r.104g>u, p.Gly35Val
Original code Patient 8
Description Allele 1 and 2: a point mutation in the exon 1 leading to
Description an amino acid change in the I domain
Date 24-Feb-2005 (Rel. 1, Created)
Date 24-Feb-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15025726
RefAuthors Tabori, U., Mark, Z., Amariglio, N., Etzioni, A., Golan,
RefAuthors H., Biloray, B., Toren, A., Rechavi, G., Dalal, I.
RefTitle Detection of RAG mutations and prenatal diagnosis in
RefTitle families presenting with either T-B- severe combined
RefTitle immunodeficiency or omenn's syndrome.
RefLoc Clin Genet 65:322-326 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5172
Feature /change: g -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1305
Feature /codon: ggc -> gtc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: RAG2_HUMAN: 35
Feature /change: G -> V
Feature /domain: I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5172
Feature /change: g -> t
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1305
Feature /codon: ggc -> gtc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: RAG2_HUMAN: 35
Feature /change: G -> V
Feature /domain: I
Diagnosis Omenn Syndrome
Symptoms Infections:
Symptoms Failure to thrive; Erythrodermia; Lymphoadenopathy;
Symptoms Hepatomegaly; Splenomegaly; Protracted diarrhea;
Symptoms Others:
Symptoms severe infections
Ethnic origin Arab
Family history Inherited
WBC 11,230
Total lymphoc 1850
IgA 7
IgG 120
IgM 12
CD3 29
CD4 20
CD8 7
CD16 20
CD19 7
DR 35
//
ID G35V(3),G35V(3); standard; MUTATION; I,I
Accession S0033
Systematic name Allele 1 and 2: g.5172G>T, c.104G>T, r.104g>u, p.Gly35Val
Original code Patient 12
Description Allele 1 and 2: a point mutation in the exon 1 leading to
Description an amino acid change in the I domain
Date 24-Feb-2005 (Rel. 1, Created)
Date 24-Feb-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15025726
RefAuthors Tabori, U., Mark, Z., Amariglio, N., Etzioni, A., Golan,
RefAuthors H., Biloray, B., Toren, A., Rechavi, G., Dalal, I.
RefTitle Detection of RAG mutations and prenatal diagnosis in
RefTitle families presenting with either T-B- severe combined
RefTitle immunodeficiency or omenn's syndrome.
RefLoc Clin Genet 65:322-326 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5172
Feature /change: g -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1305
Feature /codon: ggc -> gtc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: RAG2_HUMAN: 35
Feature /change: G -> V
Feature /domain: I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5172
Feature /change: g -> t
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1305
Feature /codon: ggc -> gtc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: RAG2_HUMAN: 35
Feature /change: G -> V
Feature /domain: I
Diagnosis T and B cell-negative severe combined immunodeficiency
Ethnic origin Arab
Family history Inherited
Parents consanguineous
WBC 7200
Total lymphoc 576
IgA 7
IgG 380
IgM 12
CD3 19
CD4 19
CD8 2
CD16 75
CD19 0
DR nd
//
ID G35V(4),G35V(4); standard; MUTATION; I,I
Accession S0034
Systematic name Allele 1 and 2: g.5172G>T, c.104G>T, r.104g>u, p.Gly35Val
Original code Patient 13
Description Allele 1 and 2: a point mutation in the exon 1 leading to
Description an amino acid change in the I domain
Date 24-Feb-2005 (Rel. 1, Created)
Date 24-Feb-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15025726
RefAuthors Tabori, U., Mark, Z., Amariglio, N., Etzioni, A., Golan,
RefAuthors H., Biloray, B., Toren, A., Rechavi, G., Dalal, I.
RefTitle Detection of RAG mutations and prenatal diagnosis in
RefTitle families presenting with either T-B- severe combined
RefTitle immunodeficiency or omenn's syndrome.
RefLoc Clin Genet 65:322-326 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5172
Feature /change: g -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1305
Feature /codon: ggc -> gtc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: RAG2_HUMAN: 35
Feature /change: G -> V
Feature /domain: I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5172
Feature /change: g -> t
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1305
Feature /codon: ggc -> gtc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: RAG2_HUMAN: 35
Feature /change: G -> V
Feature /domain: I
Diagnosis T and B cell-negative severe combined immunodeficiency
Ethnic origin Arab
Family history Inherited
Parents consanguineous
WBC 5800
Total lymphoc 290
IgA na
IgG na
IgM na
CD3 3
CD4 2
CD8 4
CD16 55
CD19 0
DR nd
//
ID G35V(5),G35V(5); standard; MUTATION; I,I
Accession S0039
Systematic name Allele 1 and 2: g.5172G>T, c.104G>T, r.104g>u, p.Gly35Val
Original code P54
Description Allele 1 and 2: A point mutation in the exon 1 leading to
Description an amino acid change in the I domain
Date 27-May-2008 (Rel. 1, Created)
Date 27-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [2]
RefCrossRef PUBMED; 16960852
RefAuthors Sobacchi, C., Marrella, V., Rucci, F., Vezzoni, P., Villa,
RefAuthors A.
RefTitle RAG-dependent primary immunodeficiencies.
RefLoc Hum Mutat:1174-1184 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5172
Feature /change: g -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1305
Feature /codon: ggc -> gtc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG2_HUMAN: 35
Feature /change: G -> V
Feature /domain: I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5172
Feature /change: g -> t
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1305
Feature /codon: ggc -> gtc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG2_HUMAN: 35
Feature /change: G -> V
Feature /domain: I
Diagnosis T and B cell-negative severe combined immunodeficiency
Symptoms Infections:
Symptoms Failure to thrive; Skin rash;
Age 3 months
IgA 0.06
IgG 2.44
IgM 0.16
CD16 87
//
ID R39G(1),R229Q(3); standard; MUTATION;
Accession S0017
Systematic name Allele 1: g.1316A>G, c.1316A>G, p.R39G
Systematic name Allele 2: g.1887G>A, c.1887G>A, p.R229Q
Original code P41
Description Allele 1; missense mutation in the exon 3
Description Allele 2; missense mutation in the exon 3
Date 21-Mar-2000 (Rel. 1, Created)
Date 26-Jul-2000 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10777560
RefAuthors Corneo, B., Moshous, D., Callebaut, I., de Chasseval, R.,
RefAuthors Fischer, A., de Villartay, J. P.
RefTitle Three-dimensional clustering of human RAG2 gene mutations
RefTitle in severe combined immune deficiency
RefLoc J. Biol. Chem. 275:12672-12675 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: HSRAG2X: 1316
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1316
Feature /codon: aga -> gga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P55895; RAG2_HUMAN: 39
Feature /change: R -> G
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG2X: 1887
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1887
Feature /codon: cgg -> cag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P55895; RAG2_HUMAN: 229
Feature /change: R -> Q
Diagnosis T and B cell-negative severe combined immunodeficiency
//
ID R39G(2a),R229Q(4a); standard; MUTATION; I,I
Accession S0018
Systematic name Allele 1: g.5183A>G, c.115A>G, r.115a>g, p.Arg39Gly
Systematic name Allele 2: g.5754G>A, c.686G>A, r.686g>a, p.Arg229Gln
Original code OM9
Description Allele 1: a point mutation in the exon 1 leading to an
Description amino acid change in the I domain
Description Allele 2: a point mutation in the exon 1 leading to an
Description amino acid change in the I domain
Date 23-Feb-2005 (Rel. 1, Created)
Date 23-Feb-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11313270
RefAuthors Corneo, B., Moshous, D., Gungor, T., Wulffraat, N.,
RefAuthors Philippet, P., Le Deist, F. L., Fischer, A., de Villartay,
RefAuthors J. P.
RefTitle Identical mutations in RAG1 or RAG2 genes leading to
RefTitle defective V(D)J recombinase activity can cause either T-B-
RefTitle severe combined immune deficiency or omenn syndrome.
RefLoc Blood 97:2772-2776 (2001)
RefNumber [2]
RefCrossRef PUBMED; 2010548
RefAuthors de Saint-Basile, G., Le Deist, F., de Villartay, J. P.,
RefAuthors Cerf-Bensussan, N., Journet, O., Brousse, N., Griscelli,
RefAuthors C., Fischer, A.
RefTitle Restricted heterogeneity of T lymphocytes in combined
RefTitle immunodeficiency with hypereosinophilia (omenn's
RefTitle syndrome).
RefLoc J Clin Invest 87:1352-1359 (1991)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5183
Feature /change: a -> g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1316
Feature /codon: aga -> gga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: RAG2_HUMAN: 39
Feature /change: R -> G
Feature /domain: I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5754
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1887
Feature /codon: cgg -> cag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: RAG2_HUMAN: 229
Feature /change: R -> Q
Feature /domain: I
Diagnosis Omenn Syndrome
Sex XY
Family history Inherited
Relative RAG2base; S0019 brother
Total lymphoc 10000
Eosinophils nd
IgE nd
CD19 0
//
ID R39G(2b),R229Q(4b); standard; MUTATION; I,I
Accession S0019
Systematic name Allele 1: g.5183A>G, c.115A>G, r.115a>g, p.Arg39Gly
Systematic name Allele 2: g.5754G>A, c.686G>A, r.686g>a, p.Arg229Gln
Original code P42
Description Allele 1: a point mutation in the exon 1 leading to an
Description amino acid change in the I domain
Description Allele 2: a point mutation in the exon 1 leading to an
Description amino acid change in the I domain
Date 23-Feb-2005 (Rel. 1, Created)
Date 23-Feb-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11313270
RefAuthors Corneo, B., Moshous, D., Gungor, T., Wulffraat, N.,
RefAuthors Philippet, P., Le Deist, F. L., Fischer, A., de Villartay,
RefAuthors J. P.
RefTitle Identical mutations in RAG1 or RAG2 genes leading to
RefTitle defective V(D)J recombinase activity can cause either T-B-
RefTitle severe combined immune deficiency or omenn syndrome.
RefLoc Blood 97:2772-2776 (2001)
RefNumber [2]
RefCrossRef PUBMED; 2010548
RefAuthors de Saint-Basile, G., Le Deist, F., de Villartay, J. P.,
RefAuthors Cerf-Bensussan, N., Journet, O., Brousse, N., Griscelli,
RefAuthors C., Fischer, A.
RefTitle Restricted heterogeneity of T lymphocytes in combined
RefTitle immunodeficiency with hypereosinophilia (omenn's
RefTitle syndrome).
RefLoc J Clin Invest 87:1352-1359 (1991)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5183
Feature /change: a -> g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1316
Feature /codon: aga -> gga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: RAG2_HUMAN: 39
Feature /change: R -> G
Feature /domain: I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5754
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1887
Feature /codon: cgg -> cag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: RAG2_HUMAN: 229
Feature /change: R -> Q
Feature /domain: I
Diagnosis T and B cell-negative severe combined immunodeficiency
Sex XY
Family history Inherited
Relative RAG2base; S0018 brother
//
ID C41W(1),M245R(1); standard; MUTATION;
Accession S0004
Systematic name Allele 1: g.1324C>G, c.1324C>G, p.C41W
Systematic name Allele 2: g.2055T>G, c.2055T>G, p.M285R
Original code OS1 ref [2]; P34 ref [3]
Description Allele 1 and 2; missense mutation in the exon 3
Date 22-Feb-1999 (Rel. 1, Created)
Date 09-Jan-2001 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 8617299
RefAuthors Chilosi, M., Facchetti, F., Notarangelo, L.D., Romagnani,
RefAuthors S., Del Prete, G., Almerigogna, F., De Carli, M.,
RefAuthors Schwarz, K., Notarangelo, L. D., Vezzoni, P.,
RefAuthors Pizzolo, G.
RefTitle CD30 cell expression and abnormal soluble CD30 serum
RefTitle accumulation in Omenn's syndrome: evidence for a T helper
RefTitle 2-mediated condition
RefLoc Eur. J. Immunol. 26:329-334 (1996)
RefNumber [2]
RefCrossRef PUBMED; 9630231
RefAuthors Villa, A., Santagata, S., Bozzi, F., Giliani, S.,
RefAuthors Frattini, A., Imberti, L., Gatta, L. B., Ochs, H. D.,
RefAuthors Schwarz, K., Notarangelo, L. D., Vezzoni, P.,
RefAuthors Spanopoulou, E.
RefTitle Partial V(D)J recombination activity leads to Omenn
RefTitle syndrome
RefLoc Cell 93:885-96 (1998)
RefNumber [3]
RefCrossRef PUBMED; 11133745
RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F.,
RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash,
RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M.,
RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A.,
RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler,
RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K.
RefTitle V(D)J recombination defects in lymphocytes due to RAG
RefTitle mutations: severe immunodeficiency with a spectrum of
RefTitle clinical presentations
RefLoc Blood 97:81-88 (2001)
DB CrossRef OMIM; 179616.0003
DB CrossRef OMIM; 179616.0004
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: HSRAG2X: 1324
Feature /change: c -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1324
Feature /codon: tgc -> tgg; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P55895; RAG2_HUMAN: 41
Feature /change: C -> W
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG2X: 2055
Feature /change: t -> g
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 2055
Feature /codon: atg -> agg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P55895; RAG2_HUMAN: 285
Feature /change: M -> R
Diagnosis Omenn syndrome
Symptoms Failure to thrive; Erythrodermia; Skin rash;
Symptoms Lymphoadenopathy; Hepatomegaly; Splenomegaly;
Symptoms Protracted diarrhea
Age at onset 1 week
WBC 16.0
Total lymphoc 5.88
Eosin 3.37
IgA <0.06
IgE 316 kU/I
IgG 1.01
IgM 0.06
CD3 45
CD4 12
CD45RA 3
CD45R0 96
CD8 35
CD16 42
CD19/CD20 <1
DR 25
PHA 7
MFT -
//
ID T77N(1),G451A(1); standard; MUTATION; I,
Accession S0044
Systematic name Allele 1: g.5298C>A, c.230C>A, r.230c>a, p.Thr77Asn
Systematic name Allele 2: g.6420G>C, c.1352G>C, r.1352g>c, p.Gly451Ala
Original code P.3
Description Allele 1: A point mutation in the exon 1 leading to an
Description amino acid change in the I domain
Description Allele 2: A point mutation in the exon 1 leading to an
Description amino acid change
Date 29-Jul-2010 (Rel. 1, Created)
Date 29-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18463379
RefAuthors Schuetz, C., Huck, K., Gudowius, S., Megahed, M., Feyen,
RefAuthors O., Hubner, B., Schneider, D. T., Manfras, B., Pannicke,
RefAuthors U., Willemze, R., Knuchel, R., Gobel, U., Schulz, A.,
RefAuthors Borkhardt, A., Friedrich, W., Schwarz, K., Niehues, T.
RefTitle An immunodeficiency disease with RAG mutations and
RefTitle granulomas.
RefLoc N Engl J Med:2030-2038 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5298
Feature /change: c -> a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1431
Feature /codon: act -> aat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG2_HUMAN: 77
Feature /change: T -> N
Feature /domain: I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 6420
Feature /change: g -> c
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 2553
Feature /codon: ggg -> gcg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG2_HUMAN: 451
Feature /change: G -> A
Diagnosis T and B cell-negative severe combined immunodeficiency
Symptoms Severe varicella infection; Recurrent bronchopneumonias;
Age 10.7
Sex XX
IgA <6 mg/dl
IgE <5 mg/dl
IgG 146 mg/dl
IgM 11.3 mg/dl
//
ID G95R(1),W453R(1); standard; MUTATION;
Accession S0007
Systematic name Allele 1: g.1484G>A, c.1484G>A, p.G95R
Systematic name Allele 2: g.2558T>A, c.2558T>A, p.W453R
Original code LJM
Description Allele 1 and 2; missense mutation in the exon 3
Date 01-Mar-1999 (Rel. 1, Created)
Date 21-Mar-2000 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10891502
RefAuthors Gomez, C. A., Ptaszek, L. M., Villa, A., Bozzi, F.,
RefAuthors Sobacchi, C., Brooks, E. G., Notarangelo, L. D.,
RefAuthors Spanopoulou, E., Pan, Z. Q., Vezzoni, P., Cortes, P.,
RefAuthors Santagata, S.
RefTitle Mutations in conserved regions of the predicted RAG2 kelch
RefTitle repeats block initiation of V(D)J recombination and result
RefTitle in primary immunodeficiencies
RefLoc Mol. Cell. Biol. 20:5653-5664(2000)
DB CrossRef OMIM; 179616.0005
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: HSRAG2X: 1484
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1484
Feature /codon: gga -> aga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P55895; RAG2_HUMAN: 95
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG2X: 2558
Feature /change: t -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 2558
Feature /codon: tgg -> agg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P55895; RAG2_HUMAN: 453
Feature /change: W -> R
Diagnosis Omenn syndrome
//
ID G95R(3),R229W(6); standard; MUTATION; I,I
Accession S0028
Systematic name Allele 1: g.5351G>A, c.283G>A, r.283g>a, p.Gly95Arg
Systematic name Allele 2: g.5753C>T, c.685C>T, r.685c>u, p.Arg229Trp
Original code Patient 4
Description Allele 1: a point mutation in the exon 1 leading to an
Description amino acid change in the I domain
Description Allele 2: a point mutation in the exon 1 leading to an
Description amino acid change in the I domain
Date 24-Feb-2005 (Rel. 1, Created)
Date 24-Feb-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15025726
RefAuthors Tabori, U., Mark, Z., Amariglio, N., Etzioni, A., Golan,
RefAuthors H., Biloray, B., Toren, A., Rechavi, G., Dalal, I.
RefTitle Detection of RAG mutations and prenatal diagnosis in
RefTitle families presenting with either T-B- severe combined
RefTitle immunodeficiency or omenn's syndrome.
RefLoc Clin Genet 65:322-326 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5351
Feature /change: g -> a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1484
Feature /codon: gga -> aga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: RAG2_HUMAN: 95
Feature /change: G -> R
Feature /domain: I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5753
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1886
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: RAG2_HUMAN: 229
Feature /change: R -> W
Feature /domain: I
Diagnosis Omenn Syndrome
Symptoms Infections:
Symptoms Failure to thrive; Erythrodermia; Lymphoadenopathy;
Symptoms Hepatomegaly; Splenomegaly; Protracted diarrhea;
Symptoms Others:
Symptoms severe infections
Family history Inherited
WBC 6300
Total lymphoc 1953
IgA 0
IgG 0
IgM 9
CD3 55
CD4 41
CD8 14
CD16 1
CD19 4
DR nd
//
ID @L155X177(1),@L155X177(1); standard; MUTATION;
Accession S0011
Systematic name Allele 1 and 2: g.1664_1665insTGTTC, c.1664_1665insTGTTC,
Systematic name p.L155fsX177
Original code P4
Description Allele 1 and 2; frameshift insertion in the exon 3 leading
Description to stop codon and premature termination
Date 21-Mar-2000 (Rel. 1, Created)
Date 09-Jan-2001 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11133745
RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F.,
RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash,
RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M.,
RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A.,
RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler,
RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K.
RefTitle V(D)J recombination defects in lymphocytes due to RAG
RefTitle mutations: severe immunodeficiency with a spectrum of
RefTitle clinical presentations
RefLoc Blood 97:81-88 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: EMBL: HSRAG2X: 1665
Feature /change: +tgttc
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1665
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P55895; RAG2_HUMAN: 155
Feature /change: L -> LFSFEDAHTC LLPTEPQKNG IVX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: EMBL: HSRAG2X: 1665
Feature /change: +tgttc
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1665
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P55895; RAG2_HUMAN: 155
Feature /change: L -> LFSFEDAHTC LLPTEPQKNG IVX
Diagnosis T and B cell-negative severe combined immunodeficiency
Symptoms Failure to thrive
Age at onset 2 months
WBC 11
Total lymphoc 0.66
Eosin 0.44
IgA <0.1
IgE 138 kU/I
IgG 2
IgM <0.01
CD3 <1
CD4 3
CD45RA n.d.
CD45R0 n.d.
CD8 8
CD16 70
CD19/CD20 <1
DR n.d.
PHA 4
MFT n.d.
//
ID R148X(1),F206C(1); standard; MUTATION;
Accession S0013
Systematic name Allele 1: g.1643C>T, c.1643C>T, p.R148X
Systematic name Allele 2: g.1818T>G, c.1818T>G, p.F206C
Original code P29
Description Allele 1; nonsense mutation in the exon 2 leading to stop
Description codons and premature termination
Description Allele 2; missense mutation in the exon 3
Date 21-Mar-2000 (Rel. 1, Created)
Date 09-Jan-2001 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 11133745
RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F.,
RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash,
RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M.,
RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A.,
RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler,
RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K.
RefTitle V(D)J recombination defects in lymphocytes due to RAG
RefTitle mutations: severe immunodeficiency with a spectrum of
RefTitle clinical presentations
RefLoc Blood 97:81-88 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: HSRAG2X: 1643
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1643
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P55895; RAG2_HUMAN: 148
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG2X: 1818
Feature /change: t -> g
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1818
Feature /codon: ttt -> tgt; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P55895; RAG2_HUMAN: 206
Feature /change: F -> C
Diagnosis Omenn syndrome
Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia;
Symptoms Lymphoadenopathy; Hepatomegaly; Splenomegaly;
Age at onset 1 month
WBC 5.9
Total lymphoc 0.71
Eosin 1.77
IgA <0.05
IgE 5 kU/I
IgG <1
IgM <0.05
CD3 58
CD4 20
CD45RA n.d.
CD45R0 n.d.
CD8 38
CD16 16
CD19/CD20 <1
DR n.d.
PHA 6
MFT -
//
ID S160L(1),M502V(1); standard; MUTATION; I,
Accession S0036
Systematic name Allele 1: g.5547C>T, c.479C>T, r.479c>u, p.Ser160Leu
Systematic name Allele 2: g.6572A>G, c.1504A>G, r.1504a>g, p.Met502Val
Original code P43
Description Allele 1: A point mutation in the exon 1 leading to an
Description amino acid change in the I domain
Description Allele 2: A point mutation in the exon 1 leading to an
Description amino acid change in the I domain
Date 27-May-2008 (Rel. 1, Created)
Date 27-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [2]
RefCrossRef PUBMED; 16960852
RefAuthors Sobacchi, C., Marrella, V., Rucci, F., Vezzoni, P., Villa,
RefAuthors A.
RefTitle RAG-dependent primary immunodeficiencies.
RefLoc Hum Mutat:1174-1184 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5547
Feature /change: c -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1680
Feature /codon: tca -> tta; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG2_HUMAN: 160
Feature /change: S -> L
Feature /domain: I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 6572
Feature /change: a -> g
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 2705
Feature /codon: atg -> gtg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG2_HUMAN: 502
Feature /change: M -> V
Diagnosis Omenn Syndrome
Symptoms Infections:
Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia;
Symptoms Lymphoadenopathy;
Age 3 weeks
WBC 41.2
IgE 200
IgG 0.73
CD3 8
CD4 75
CD4+CD45RA+ 1
CD4+CD45R0+ 99
CD8 10
CD16 15
//
ID S194X/Y195D(1),S194X/Y195D(1); standard; MUTATION; I,I
Accession S0043
Systematic name Allele 1 and 2: g.[5649C>A;5651T>G], c.[581C>A;583T>G],
Systematic name r.[581c>a;583u>g], p.[Ser194X;Tyr195Asp]
Original code Patient
Description Allele 1 and 2: Two point mutation in the exon 1 leading
Description to a premature stop codon and an amino acid change in the
Description I domain
Date 22-Jun-2010 (Rel. 1, Created)
Date 22-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20128425
RefAuthors Sadeghi-Shabestari, M., Vesal, S., Jabbarpour-Bonyadi, M.,
RefAuthors de Villatay, J. P., Fischer, A., Rezaei, N.
RefTitle Novel RAG2 mutation in a patient with T- B- severe
RefTitle combined immunodeficiency and disseminated BCG disease.
RefLoc J Investig Allergol Clin Immunol:494-496 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5649
Feature /change: c -> a
Feature /genomic_region: exon; 1
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5651
Feature /change: t -> g
Feature /genomic_region: exon; 1
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: nonsense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1782
Feature /codon: tca -> taa; 2
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1784
Feature /codon: tac -> gac; 1
Feature aa; 5
Feature /rnalink: 3
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG2_HUMAN: 194
Feature /change: S -> X
Feature /domain: I
Feature aa; 6
Feature /rnalink: 4
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG2_HUMAN: 195
Feature /change: Y -> D
Feature /domain: I
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 9
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5649
Feature /change: c -> a
Feature /genomic_region: exon; 1
Feature dna; 8
Feature /rnalink: 10
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5651
Feature /change: t -> g
Feature /genomic_region: exon; 1
Feature rna; 9
Feature /dnalink: 7
Feature /aalink: 11
Feature /name: nonsense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1782
Feature /codon: tca -> taa; 2
Feature rna; 10
Feature /dnalink: 8
Feature /aalink: 12
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1784
Feature /codon: tac -> gac; 1
Feature aa; 11
Feature /rnalink: 9
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG2_HUMAN: 194
Feature /change: S -> X
Feature /domain: I
Feature aa; 12
Feature /rnalink: 10
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG2_HUMAN: 195
Feature /change: Y -> D
Feature /domain: I
Diagnosis T and B cell-negative severe combined immunodeficiency
Symptoms Others:
Symptoms oral candidiasis, respiratory distress
Age 0.5
Sex XY
Ethnic origin Turkey
Family history Inherited
WBC 3200
IgA 0.95
IgG 4.18
IgM 0.54
CD3 10
CD4 6
CD8 12
CD19 2
Comment first sibling died of disseminated BCG at 7 months age
Comment parents consanguineous
//
ID T215I(1),T215I(1); standard; MUTATION; I,I
Accession S0032
Systematic name Allele 1 and 2: g.5712C>T, c.644C>T, r.644c>u, p.Thr215Ile
Original code Patient 9
Description Allele 1 and 2: a point mutation in the exon 1 leading to
Description an amino acid change in the I domain
Date 24-Feb-2005 (Rel. 1, Created)
Date 24-Feb-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15025726
RefAuthors Tabori, U., Mark, Z., Amariglio, N., Etzioni, A., Golan,
RefAuthors H., Biloray, B., Toren, A., Rechavi, G., Dalal, I.
RefTitle Detection of RAG mutations and prenatal diagnosis in
RefTitle families presenting with either T-B- severe combined
RefTitle immunodeficiency or omenn's syndrome.
RefLoc Clin Genet 65:322-326 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5712
Feature /change: c -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1845
Feature /codon: acc -> atc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: RAG2_HUMAN: 215
Feature /change: T -> I
Feature /domain: I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5712
Feature /change: c -> t
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1845
Feature /codon: acc -> atc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: RAG2_HUMAN: 215
Feature /change: T -> I
Feature /domain: I
Diagnosis T and B cell-negative severe combined immunodeficiency
Ethnic origin Jewish
Family history Inherited
WBC 6000
Total lymphoc 600
IgA <6
IgG 0
IgM 25
CD3 40
CD4 24
CD8 15
CD16 33
CD19 0
DR 0
//
ID R229Q(5),R229Q(5); standard; MUTATION; I,I
Accession S0045
Systematic name Allele 1 and 2: g.5754G>A, c.686G>A, r.686g>a, p.Arg229Gln
Original code P8
Description Allele 1 and 2: A point mutation in the exon 1 leading to
Description an amino acid change in the I domain
Date 05-Aug-2010 (Rel. 1, Created)
Date 05-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19414857
RefAuthors Poliani, P. L., Facchetti, F., Ravanini, M., Gennery, A.
RefAuthors R., Villa, A., Roifman, C. M., Notarangelo, L. D.
RefTitle Early defects in human T-cell development severely affect
RefTitle distribution and maturation of thymic stromal cells:
RefTitle possible implications for the pathophysiology of omenn
RefTitle syndrome.
RefLoc Blood:105-108 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5754
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1887
Feature /codon: cgg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG2_HUMAN: 229
Feature /change: R -> Q
Feature /domain: I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5754
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1887
Feature /codon: cgg -> cag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG2_HUMAN: 229
Feature /change: R -> Q
Feature /domain: I
Diagnosis Omenn Syndrome
Symptoms Failure to thrive; Erythrodermia; interstitial pneumonia;
Symptoms Chronic diarrhea; Myocarditis;
//
ID R229W(1),R229W(1); standard; MUTATION;
Accession S0009
Systematic name Allele 1 and 2: g.1886C>T, c.1886C>T, p.R229W
Original code P24
Description Allele 1 and 2; missense mutation in the exon 3
Date 01-Mar-1999 (Rel. 1, Created)
Date 09-Jan-2001 (Rel. 1, Last updated, Version 4)
RefNumber [1]
RefCrossRef PUBMED; 11133745
RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F.,
RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash,
RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M.,
RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A.,
RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler,
RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K.
RefTitle V(D)J recombination defects in lymphocytes due to RAG
RefTitle mutations: severe immunodeficiency with a spectrum of
RefTitle clinical presentations
RefLoc Blood 97:81-88 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: HSRAG2X: 1886
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1886
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P55895; RAG2_HUMAN: 229
Feature /change: R -> W
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG2X: 1886
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1886
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P55895; RAG2_HUMAN: 229
Feature /change: R -> W
Diagnosis Leaky severe combined immunodeficiency
Symptoms Erythrodermia; Skin rash;
Age at onset birth
WBC 1.67
Total lymphoc 0.28
Eosin 0.78
IgA 0.34
IgE 8500 kU/I
IgG 3.85
IgM 0.20
CD3 53
CD4 45
CD45RA n.d.
CD45R0 n.d.
CD8 15
CD16 19
CD19/CD20 6
DR 70
PHA 4.5
MFT n.d.
//
ID R229W(2a),R229W(2a); standard; MUTATION;
Accession S0014
Systematic name Allele 1 and 2: g.1886C>T, c.1886C>T, p.R229W
Original code P30a
Description Allele 1 and 2; missense mutation in the exon 3
Date 21-Mar-2000 (Rel. 1, Created)
Date 09-Jan-2001 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 11133745
RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F.,
RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash,
RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M.,
RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A.,
RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler,
RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K.
RefTitle V(D)J recombination defects in lymphocytes due to RAG
RefTitle mutations: severe immunodeficiency with a spectrum of
RefTitle clinical presentations
RefLoc Blood 97:81-88 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: HSRAG2X: 1886
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1886
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P55895; RAG2_HUMAN: 229
Feature /change: R -> W
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG2X: 1886
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1886
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P55895; RAG2_HUMAN: 229
Feature /change: R -> W
Diagnosis Omenn syndrome
Symptoms Erythrodermia; Lymphoadenopathy; Hepatomegaly;
Symptoms Splenomegaly;
Age at onset 4 months
Sex XY
Relative RAG2; S0015 brother
WBC n.a.
Total lymphoc n.a.
Eosin n.a.
IgA n.a.
IgE n.a.
IgG n.a.
IgM n.a.
CD3 77
CD4 74
CD45RA n.d.
CD45R0 n.d.
CD8 4
CD16 7
CD19/CD20 4
DR 72
PHA 2.5
MFT -
//
ID R229W(2b),R229W(2b); standard; MUTATION;
Accession S0015
Systematic name Allele 1 and 2: g.1886C>T, c.1886C>T, p.R229W
Original code P30b
Description Allele 1 and 2; missense mutation in the exon 3
Date 21-Mar-2000 (Rel. 1, Created)
Date 09-Jan-2001 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 11133745
RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F.,
RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash,
RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M.,
RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A.,
RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler,
RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K.
RefTitle V(D)J recombination defects in lymphocytes due to RAG
RefTitle mutations: severe immunodeficiency with a spectrum of
RefTitle clinical presentations
RefLoc Blood 97:81-88 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: HSRAG2X: 1886
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1886
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P55895; RAG2_HUMAN: 229
Feature /change: R -> W
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG2X: 1886
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1886
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P55895; RAG2_HUMAN: 229
Feature /change: R -> W
Diagnosis Omenn syndrome
Symptoms Erythrodermia; Lymphoadenopathy; Hepatomegaly;
Symptoms Splenomegaly;
Age at onset 4 months
Sex XY
Relative RAG2; S0014 brother
WBC n.a.
Total lymphoc n.a.
Eosin n.a.
IgA n.a.
IgE n.a.
IgG n.a.
IgM n.a.
CD3 61
CD4 59
CD45RA 8
CD45R0 96
CD8 8
CD16 9
CD19/CD20 2
DR 37
PHA n.a.
MFT -
//
ID R229Q(1),R229Q(1); standard; MUTATION;
Accession S0008
Systematic name Allele 1 and 2: g.1887G>A, c.1887G>A, p.R229Q
Original code P26 ref [2]
Description Allele 1 and 2; missense mutation in the exon 3
Date 01-Mar-1999 (Rel. 1, Created)
Date 09-Jan-2001 (Rel. 1, Last updated, Version 4)
RefNumber [1]
RefCrossRef PUBMED; 10552957
RefAuthors Signorini, S., Imberti, L., Pirovano, S., Villa, A.,
RefAuthors Facchetti, F., Ungari, M., Bozzi, F., Albertini, A.,
RefAuthors Ugazio, A. G., Vezzoni, P., Notarangelo, L. D.
RefTitle Intrathymic restriction and peripheral expansion of the
RefTitle T-cell repertoire in Omenn syndrome
RefLoc Blood 94:3468-3478 (1999)
RefNumber [2]
RefCrossRef PUBMED; 11133745
RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F.,
RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash,
RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M.,
RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A.,
RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler,
RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K.
RefTitle V(D)J recombination defects in lymphocytes due to RAG
RefTitle mutations: severe immunodeficiency with a spectrum of
RefTitle clinical presentations
RefLoc Blood 97:81-88 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: HSRAG2X: 1887
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1887
Feature /codon: cgg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P55895; RAG2_HUMAN: 229
Feature /change: R -> Q
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG2X: 1887
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1887
Feature /codon: cgg -> cag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P55895; RAG2_HUMAN: 229
Feature /change: R -> Q
Diagnosis Leaky severe combined immunodeficiency
Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia;
Symptoms Hepatomegaly; Protracted diarrhea
Age at onset 2 weeks
Sex XX
Family history inherited
Parents consanguineous
WBC 21.5
Total lymphoc 8.6
Eosin 9.67
IgA 0.08
IgE 9100 kU/I
IgG 2.05
IgM 0.87
CD3 43
CD4 12
CD45RA 1
CD45R0 99
CD8 16
CD16 46
CD19/CD20 <1
DR 59
PHA 7.5
MFT -
//
ID R229Q(2),Deletion(1); standard; MUTATION;
Accession S0003
Systematic name Allele 1: g.1887G>A, c.1887G>A, p.R229Q
Original code P3 ref [1]; P20 ref [2]
Description Allele 1; missense mutation in the exon 3
Description Allele 2; large undefined deletion on chromosome 11p13
Description encompassed the total RAG1 and RAG2 genes
Date 19-Feb-1999 (Rel. 1, Created)
Date 09-Jan-2001 (Rel. 1, Last updated, Version 4)
RefNumber [1]
RefCrossRef PUBMED; 8810255
RefAuthors Schwarz, K., Gauss, G. H., Ludwig, L., Pannicke, U., Li,
RefAuthors Z., Lindner, D., Friedrich, W., Seger, R. A., Hansen-Hagge,
RefAuthors T. E., Desiderio, S., Lieber, M. R., Bartram, C. R.
RefTitle RAG mutations in human B cell-negative SCID
RefLoc Science 274:97-99 (1996)
RefNumber [2]
RefCrossRef PUBMED; 11133745
RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F.,
RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash,
RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M.,
RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A.,
RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler,
RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K.
RefTitle V(D)J recombination defects in lymphocytes due to RAG
RefTitle mutations: severe immunodeficiency with a spectrum of
RefTitle clinical presentations
RefLoc Blood 97:81-88 (2001)
DB CrossRef OMIM; 179616.0002
DB CrossRef SWISSCHANGE; RAG2_HUMAN_1
DB CrossRef UniProt; P55895:229_229
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: HSRAG2X: 1887
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 1887
Feature /codon: cgg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P55895; RAG2_HUMAN: 229
Feature /change: R -> Q
FeatureHeader allele; 2
Feature dna; 4
Feature /name: deletion
Feature /change: unknown
Feature /note: large undefined deletion on chromosome 11p13
Feature /note: paternal deletion encompassed the total RAG1 and
Feature /note: RAG2 genes
Feature /note: the break points were not determined
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Leaky severe combined immunodeficiency
Symptoms Erythrodermia; Hepatomegaly; Protracted diarrhea
Age at onset 2.5 months
Sex XY
Family history inherited
Parents consanguineous
WBC 12.9
Total lymphoc 3.22
Eosin 4.38
IgA 0.11
IgE 21 kU/I
IgG 2.08
IgM <0.08
CD3 35
CD4 27
CD45RA n.d.
CD45R0 n.d.
CD8 11
CD16 50
CD19/CD20 5
DR n.d.
PHA 109
MFT -
//
ID R229W(3),R229W(3); standard; MUTATION; I,I
Accession S0026
Systematic name Allele 1 and 2: g.5753C>T, c.685C>T, r.685c>u, p.Arg229Trp
Original code Patient 1
Description Allele 1 and 2: a point mutation in the exon 1 leading to
Description an amino acid change in the I domain
Date 24-Feb-2005 (Rel. 1, Created)
Date 24-Feb-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15025726
RefAuthors Tabori, U., Mark, Z., Amariglio, N., Etzioni, A., Golan,
RefAuthors H., Biloray, B., Toren, A., Rechavi, G., Dalal, I.
RefTitle Detection of RAG mutations and prenatal diagnosis in
RefTitle families presenting with either T-B- severe combined
RefTitle immunodeficiency or omenn's syndrome.
RefLoc Clin Genet 65:322-326 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5753
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1886
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: RAG2_HUMAN: 229
Feature /change: R -> W
Feature /domain: I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5753
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1886
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: RAG2_HUMAN: 229
Feature /change: R -> W
Feature /domain: I
Diagnosis Omenn Syndrome
Symptoms Infections:
Symptoms Failure to thrive; Erythrodermia; Lymphoadenopathy;
Symptoms Hepatomegaly; Splenomegaly; Protracted diarrhea;
Symptoms Others:
Symptoms severe infections
Ethnic origin Jewish
Family history Inherited
WBC 2870
Total lymphoc 287
IgA 10
IgG 448
IgM 23
CD3 16
CD4 15
CD8 12
CD16 64
CD19 2
DR nd
//
ID R229W(4),R229W(4); standard; MUTATION; I,I
Accession S0027
Systematic name Allele 1 and 2: g.5753C>T, c.685C>T, r.685c>u, p.Arg229Trp
Original code Patient 2
Description Allele 1 and 2: a point mutation in the exon 1 leading to
Description an amino acid change in the I domain
Date 24-Feb-2005 (Rel. 1, Created)
Date 24-Feb-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15025726
RefAuthors Tabori, U., Mark, Z., Amariglio, N., Etzioni, A., Golan,
RefAuthors H., Biloray, B., Toren, A., Rechavi, G., Dalal, I.
RefTitle Detection of RAG mutations and prenatal diagnosis in
RefTitle families presenting with either T-B- severe combined
RefTitle immunodeficiency or omenn's syndrome.
RefLoc Clin Genet 65:322-326 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5753
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1886
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: RAG2_HUMAN: 229
Feature /change: R -> W
Feature /domain: I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5753
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1886
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: RAG2_HUMAN: 229
Feature /change: R -> W
Feature /domain: I
Diagnosis Omenn Syndrome
Symptoms Infections:
Symptoms Failure to thrive; Erythrodermia; Lymphoadenopathy;
Symptoms Hepatomegaly; Splenomegaly; Protracted diarrhea;
Symptoms Others:
Symptoms severe infections
Ethnic origin Jewish
Family history Inherited
WBC 11,670
Total lymphoc 1972
IgA 34
IgG 385
IgM 20
CD3 53
CD4 45
CD8 15
CD16 19
CD19 2
DR 70
//
ID R229W(7),R229W(7); standard; MUTATION; I,I
Accession S0029
Systematic name Allele 1 and 2: g.5753C>T, c.685C>T, r.685c>u, p.Arg229Trp
Original code Patient 5
Description Allele 1 and 2: a point mutation in the exon 1 leading to
Description an amino acid change in the I domain
Date 24-Feb-2005 (Rel. 1, Created)
Date 24-Feb-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15025726
RefAuthors Tabori, U., Mark, Z., Amariglio, N., Etzioni, A., Golan,
RefAuthors H., Biloray, B., Toren, A., Rechavi, G., Dalal, I.
RefTitle Detection of RAG mutations and prenatal diagnosis in
RefTitle families presenting with either T-B- severe combined
RefTitle immunodeficiency or omenn's syndrome.
RefLoc Clin Genet 65:322-326 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5753
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1886
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: RAG2_HUMAN: 229
Feature /change: R -> W
Feature /domain: I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5753
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1886
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: RAG2_HUMAN: 229
Feature /change: R -> W
Feature /domain: I
Diagnosis Omenn Syndrome
Symptoms Infections:
Symptoms Failure to thrive; Erythrodermia; Lymphoadenopathy;
Symptoms Hepatomegaly; Splenomegaly; Protracted diarrhea;
Symptoms Others:
Symptoms severe infections
Ethnic origin Arab
Family history Inherited
Parents consanguineous
WBC 45,200
Total lymphoc 34,300
IgA 0
IgG 0
IgM 3
CD3 93
CD4 28
CD8 68
CD16 5
CD19 2
DR 89
//
ID R229W(8),R229W(8); standard; MUTATION; I,I
Accession S0030
Systematic name Allele 1 and 2: g.5753C>T, c.685C>T, r.685c>u, p.Arg229Trp
Original code Patient 6
Description Allele 1 and 2: a point mutation in the exon 1 leading to
Description an amino acid change in the I domain
Date 24-Feb-2005 (Rel. 1, Created)
Date 24-Feb-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15025726
RefAuthors Tabori, U., Mark, Z., Amariglio, N., Etzioni, A., Golan,
RefAuthors H., Biloray, B., Toren, A., Rechavi, G., Dalal, I.
RefTitle Detection of RAG mutations and prenatal diagnosis in
RefTitle families presenting with either T-B- severe combined
RefTitle immunodeficiency or omenn's syndrome.
RefLoc Clin Genet 65:322-326 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5753
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1886
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: RAG2_HUMAN: 229
Feature /change: R -> W
Feature /domain: I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5753
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1886
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: RAG2_HUMAN: 229
Feature /change: R -> W
Feature /domain: I
Diagnosis Omenn Syndrome
Symptoms Infections:
Symptoms Failure to thrive; Erythrodermia; Lymphoadenopathy;
Symptoms Hepatomegaly; Splenomegaly; Protracted diarrhea;
Symptoms Others:
Symptoms severe infections
Ethnic origin Arab
Family history Inherited
WBC 40,000
Total lymphoc 20,000
IgA na
IgG na
IgM na
CD3 60
CD4 44
CD8 25
CD16 5
CD19 2
DR 68
//
ID R229W(9),R229W(9); standard; MUTATION; I,I
Accession S0035
Systematic name Allele 1 and 2: g.5753C>T, c.685C>T, r.685c>u, p.Arg229Trp
Original code Patient 14
Description Allele 1 and 2: a point mutation in the exon 1 leading to
Description an amino acid change in the I domain
Date 24-Feb-2005 (Rel. 1, Created)
Date 24-Feb-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15025726
RefAuthors Tabori, U., Mark, Z., Amariglio, N., Etzioni, A., Golan,
RefAuthors H., Biloray, B., Toren, A., Rechavi, G., Dalal, I.
RefTitle Detection of RAG mutations and prenatal diagnosis in
RefTitle families presenting with either T-B- severe combined
RefTitle immunodeficiency or omenn's syndrome.
RefLoc Clin Genet 65:322-326 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5753
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1886
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: RAG2_HUMAN: 229
Feature /change: R -> W
Feature /domain: I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5753
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1886
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: RAG2_HUMAN: 229
Feature /change: R -> W
Feature /domain: I
Diagnosis T and B cell-negative severe combined immunodeficiency
Ethnic origin Jewish
Family history Inherited
WBC 1260
Total lymphoc 110
IgA 7
IgG 1200 (on intravenous Ig)
IgM 145
CD3 36
CD4 14
CD8 7
CD16 41
CD19 0
DR nd
//
ID R229W(10),R229W(10); standard; MUTATION; I,I
Accession S0038
Systematic name Allele 1 and 2: g.5753C>T, c.685C>T, r.685c>u, p.Arg229Trp
Original code P48
Description Allele 1 and 2: A point mutation in the exon 1 leading to
Description an amino acid change in the I domain
Date 27-May-2008 (Rel. 1, Created)
Date 27-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [2]
RefCrossRef PUBMED; 16960852
RefAuthors Sobacchi, C., Marrella, V., Rucci, F., Vezzoni, P., Villa,
RefAuthors A.
RefTitle RAG-dependent primary immunodeficiencies.
RefLoc Hum Mutat:1174-1184 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5753
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1886
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG2_HUMAN: 229
Feature /change: R -> W
Feature /domain: I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5753
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1886
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG2_HUMAN: 229
Feature /change: R -> W
Feature /domain: I
Diagnosis Omenn Syndrome
Symptoms Others:
Symptoms Recurrent URTI, Generalised oedema
Age 15 days
WBC 11.4
IgA 0.72
IgE >2000
IgG 7.21
IgM 0.56
CD3 67
CD4 60
CD8 22
CD16 26
//
ID #V238X247(1a),#V238X247(1a); standard; MUTATION; I,I
Accession S0020
Systematic name Allele 1 and 2: g.5780delG, c.712delG, r.712delg,
Systematic name p.Val238fsX10
Original code RAG-SCID 2.1
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 1 leading to a premature stop codon in the I domain
Date 24-Feb-2005 (Rel. 1, Created)
Date 24-Feb-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12200379
RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Verkaik, N. S.,
RefAuthors Vossen, J. M., de Groot, R., Bernatowska, E., Langerak, A.
RefAuthors W., van Gent, D. C., van Dongen, J. J.
RefTitle The immunophenotypic and immunogenotypic B-cell
RefTitle differentiation arrest in bone marrow of RAG-deficient
RefTitle SCID patients corresponds to residual recombination
RefTitle activities of mutated RAG proteins.
RefLoc Blood 100:2145-2152 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: RAG2_DNA: 5780
Feature /change: -g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1913
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: RAG2_HUMAN: 238
Feature /change: V -> LIFPWVAQLX
Feature /domain: I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: RAG2_DNA: 5780
Feature /change: -g
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1913
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: RAG2_HUMAN: 238
Feature /change: V -> LIFPWVAQLX
Feature /domain: I
Diagnosis T and B cell-negative severe combined immunodeficiency
Family history Inherited
Parents consanguineous
Relative RAG2base; S0021
//
ID #V238X247(1b),#V238X247(1b); standard; MUTATION; I,I
Accession S0021
Systematic name Allele 1 and 2: g.5780delG, c.712delG, r.712delg,
Systematic name p.Val238fsX10
Original code RAG-SCID 2.2
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 1 leading to a premature stop codon in the I domain
Date 24-Feb-2005 (Rel. 1, Created)
Date 24-Feb-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12200379
RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Verkaik, N. S.,
RefAuthors Vossen, J. M., de Groot, R., Bernatowska, E., Langerak, A.
RefAuthors W., van Gent, D. C., van Dongen, J. J.
RefTitle The immunophenotypic and immunogenotypic B-cell
RefTitle differentiation arrest in bone marrow of RAG-deficient
RefTitle SCID patients corresponds to residual recombination
RefTitle activities of mutated RAG proteins.
RefLoc Blood 100:2145-2152 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: RAG2_DNA: 5780
Feature /change: -g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1913
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: RAG2_HUMAN: 238
Feature /change: V -> LIFPWVAQLX
Feature /domain: I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: RAG2_DNA: 5780
Feature /change: -g
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1913
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: RAG2_HUMAN: 238
Feature /change: V -> LIFPWVAQLX
Feature /domain: I
Diagnosis T and B cell-negative severe combined immunodeficiency
Family history Inherited
Parents consanguineous
Relative RAG2base; S0020
//
ID #V238X247(2),#V238X247(2); standard; MUTATION; I,I
Accession S0023
Systematic name Allele 1 and 2: g.5780delG, c.712delG, r.712delg,
Systematic name p.Val238fsX10
Original code RAG-SCID 4
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 1 leading to a premature stop codon in the I domain
Date 24-Feb-2005 (Rel. 1, Created)
Date 24-Feb-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12200379
RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Verkaik, N. S.,
RefAuthors Vossen, J. M., de Groot, R., Bernatowska, E., Langerak, A.
RefAuthors W., van Gent, D. C., van Dongen, J. J.
RefTitle The immunophenotypic and immunogenotypic B-cell
RefTitle differentiation arrest in bone marrow of RAG-deficient
RefTitle SCID patients corresponds to residual recombination
RefTitle activities of mutated RAG proteins.
RefLoc Blood 100:2145-2152 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: RAG2_DNA: 5780
Feature /change: -g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1913
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: RAG2_HUMAN: 238
Feature /change: V -> LIFPWVAQLX
Feature /domain: I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: RAG2_DNA: 5780
Feature /change: -g
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1913
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: RAG2_HUMAN: 238
Feature /change: V -> LIFPWVAQLX
Feature /domain: I
Diagnosis T and B cell-negative severe combined immunodeficiency
Comment Seemingly homozygous mutation, but deletion of the other
Comment allele was not ruled out.
//
ID K440N(1),P253R(1); standard; MUTATION; DNAB,I
Accession S0040
Systematic name Allele 1: g.6388A>C, c.1320A>C, r.1320a>c, p.Lys440Asn
Systematic name Allele 2: g.5826C>G, c.758C>G, r.758c>g, p.Pro253Arg
Original code P56
Description Allele 1: A point mutation in the exon 1 leading to an
Description amino acid change in the DNAB domain
Description Allele 2: A point mutation in the exon 1 leading to an
Description amino acid change in the DNAB domain
Date 27-May-2008 (Rel. 1, Created)
Date 27-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16960852
RefAuthors Sobacchi, C., Marrella, V., Rucci, F., Vezzoni, P., Villa,
RefAuthors A.
RefTitle RAG-dependent primary immunodeficiencies.
RefLoc Hum Mutat:1174-1184 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 6388
Feature /change: a -> c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 2521
Feature /codon: aaa -> aac; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG2_HUMAN: 440
Feature /change: K -> N
Feature /domain: DNAB
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 5826
Feature /change: c -> g
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 1959
Feature /codon: cca -> cga; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG2_HUMAN: 253
Feature /change: P -> R
Feature /domain: I
Diagnosis Omenn Syndrome
Age 7 months
WBC 9.9
CD3 13
CD4 8
CD8 2
CD16 83
//
ID #I273-1(1),#I273-1(1); standard; MUTATION;
Accession S0005
Systematic name Allele 1: g.2018_2020delATT, c.2018_2020delATT, p.I273del
Original code DN
Description Allele 1 and 2; inframe deletion in the exon 3
Date 01-Mar-1999 (Rel. 1, Created)
Date 21-Mar-2000 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10891502
RefAuthors Gomez, C. A., Ptaszek, L. M., Villa, A., Bozzi, F.,
RefAuthors Sobacchi, C., Brooks, E. G., Notarangelo, L. D.,
RefAuthors Spanopoulou, E., Pan, Z. Q., Vezzoni, P., Cortes, P.,
RefAuthors Santagata, S.
RefTitle Mutations in conserved regions of the predicted RAG2 kelch
RefTitle repeats block initiation of V(D)J recombination and result
RefTitle in primary immunodeficiencies
RefLoc Mol. Cell. Biol. 20:5653-5664(2000)
DB CrossRef OMIM; 179616.0006
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: HSRAG2X: 2018..2020
Feature /change: -att
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 2018..2020
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P55895; RAG2_HUMAN: 273
Feature /change: -I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: HSRAG2X: 2018..2020
Feature /change: -att
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 2018..2020
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P55895; RAG2_HUMAN: 273
Feature /change: -I
Diagnosis B cell-negative severe combined immunodeficiency
//
ID W307X(1),W307X(1); standard; MUTATION;
Accession S0010
Systematic name Allele 1 and 2: g.2122G>A, c.2122G>A, p.W307X
Original code P1
Description Allele 1 and 2; nonsense mutation in the exon 3 leading
Description to stop codon and premature termination
Date 21-Mar-2000 (Rel. 1, Created)
Date 09-Jan-2001 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 11133745
RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F.,
RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash,
RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M.,
RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A.,
RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler,
RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K.
RefTitle V(D)J recombination defects in lymphocytes due to RAG
RefTitle mutations: severe immunodeficiency with a spectrum of
RefTitle clinical presentations
RefLoc Blood 97:81-88 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: HSRAG2X: 2122
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 2122
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P55895; RAG2_HUMAN: 307
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG2X: 2122
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 2122
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P55895; RAG2_HUMAN: 307
Feature /change: W -> X
Diagnosis T and B cell-negative severe combined immunodeficiency
Symptoms Failure to thrive; Protracted diarrhea
Age at onset 4 months
WBC 7.2
Total lymphoc 0.72
Eosin 0.14
IgA <0.01
IgE n.d.
IgG <1
IgM <0.01
CD3 <1
CD4 <1
CD45RA n.d.
CD45R0 n.d.
CD8 <1
CD16 74
CD19/CD20 <1
DR n.d.
PHA n.d.
MFT n.d.
//
ID E407X(1),E407X(1); standard; MUTATION; DNAB,DNAB
Accession S0041
Systematic name Allele 1 and 2: g.6287G>T, c.1219G>T, r.1219g>u, p.Glu407X
Description Allele 1 and 2: A point mutation in the exon 1 leading to a
Description premature stop codon in the DNAB domain
Date 25-Aug-2008 (Rel. 1, Created)
Date 25-Aug-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (25-Aug-2008) to RAG2base.
RefLoc Rami Abou Jamra; Institute of Human Genetics, University of
RefLoc Bonn, Wilhelmstr. 31, 53111 Bonn, Germany; Tel
RefLoc +4922828722170; Fax +4922828722380; e-mail
RefLoc rami.aboujamra@uni-bonn.de
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 6287
Feature /change: g -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 2420
Feature /codon: gaa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG2_HUMAN: 407
Feature /change: E -> X
Feature /domain: DNAB
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 6287
Feature /change: g -> t
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 2420
Feature /codon: gaa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG2_HUMAN: 407
Feature /change: E -> X
Feature /domain: DNAB
Symptoms Others:
Symptoms recurrent infections, also cerebral.
Age 5
Sex XY
Ethnic origin Caucasoid; Libya, Tunisia
Family history Not known
Relative Two affected brothers. One died at the age of 5 years and
Relative the other at the age of 1 year. Not other known cases in
Relative the family. Parents are probably far related.
Comment Can not decide if it is Omenn syndrome or SCID.
//
ID W416L(1),W416L(1); standard; MUTATION; DNAB,DNAB
Accession S0037
Systematic name Allele 1 and 2: g.6315G>T, c.1247G>T, r.1247g>u,
Systematic name p.Trp416Leu
Original code P45
Description Allele 1 and 2: A point mutation in the exon 1 leading to
Description an amino acid change in the DNAB domain
Date 27-May-2008 (Rel. 1, Created)
Date 27-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [2]
RefCrossRef PUBMED; 16960852
RefAuthors Sobacchi, C., Marrella, V., Rucci, F., Vezzoni, P., Villa,
RefAuthors A.
RefTitle RAG-dependent primary immunodeficiencies.
RefLoc Hum Mutat:1174-1184 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 6315
Feature /change: g -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 2448
Feature /codon: tgg -> ttg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG2_HUMAN: 416
Feature /change: W -> L
Feature /domain: DNAB
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 6315
Feature /change: g -> t
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 2448
Feature /codon: tgg -> ttg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG2_HUMAN: 416
Feature /change: W -> L
Feature /domain: DNAB
Diagnosis Omenn Syndrome
Symptoms Infections:
Symptoms Failure to thrive; Erythrodermia; Skin rash;
Symptoms Lymphoadenopathy; Splenomegaly; Protracted diarrhea;
Age 3 months
WBC 44.3
IgA <0.07
IgE 124
IgG <0.07
IgM <0.07
CD3 94
CD4 80
CD4+CD45RA+ 27
CD4+CD45R0+ 80
CD8 16
CD16 4
//
ID W453R(2),W453R(2); standard; MUTATION;
Accession S0024
Systematic name Allele 1 and 2: g.6425T>A, c.1357T>A, r.1357u>a,
Systematic name p.Trp453Arg
Original code RAG-SCID 5
Description Allele 1 and 2: a point mutation in the exon 1 leading to
Description an amino acid change
Date 24-Feb-2005 (Rel. 1, Created)
Date 24-Feb-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12200379
RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Verkaik, N. S.,
RefAuthors Vossen, J. M., de Groot, R., Bernatowska, E., Langerak, A.
RefAuthors W., van Gent, D. C., van Dongen, J. J.
RefTitle The immunophenotypic and immunogenotypic B-cell
RefTitle differentiation arrest in bone marrow of RAG-deficient
RefTitle SCID patients corresponds to residual recombination
RefTitle activities of mutated RAG proteins.
RefLoc Blood 100:2145-2152 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 6425
Feature /change: t -> a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 2558
Feature /codon: tgg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: RAG2_HUMAN: 453
Feature /change: W -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 6425
Feature /change: t -> a
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 2558
Feature /codon: tgg -> agg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: RAG2_HUMAN: 453
Feature /change: W -> R
Diagnosis Omenn Syndrome
Family history Inherited
//
ID A456T(1),A456T(1); standard; MUTATION;
Accession S0042
Systematic name Allele 1 and 2: g.6434G>A, c.1366G>A, r.1366g>a,
Systematic name p.Ala456Thr
Description Allele 1 and 2: A point mutation in the exon 1 leading to
Description an amino acid change
Date 18-Jun-2010 (Rel. 1, Created)
Date 18-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19470080
RefAuthors Ktiouet, S., Bertrand, Y., Rival-Tringali, A. L.,
RefAuthors Kanitakis, J., Malcus, C., Poitevin, F., Picard, C.,
RefAuthors Claudy, A., Faure, M.
RefTitle Omenn syndrome due to mutation of the RAG2 gene.
RefLoc J Eur Acad Dermatol Venereol:1449-1451 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 6434
Feature /change: g -> a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 2567
Feature /codon: gct -> act; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG2_HUMAN: 456
Feature /change: A -> T
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 6434
Feature /change: g -> a
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 2567
Feature /codon: gct -> act; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG2_HUMAN: 456
Feature /change: A -> T
Diagnosis Omenn Syndrome
Symptoms Others:
Symptoms loss of hair, epidermal acanthosis and papillomatosis, slight spongiosis
Age 0
Sex XX
Ethnic origin France
Relative Parents heterozygous carriers of 2567g>a
WBC 56
Total lymphoc 45
Eosinophils 5
IgE 30
//
ID N474S(1),N474S(1); standard; MUTATION;
Accession S0012
Systematic name Allele 1 and 2: g.2622A>G, c.2622A>G, p.N474S
Original code P10
Description Allele 1 and 2; missense mutation in the exon 3
Date 21-Mar-2000 (Rel. 1, Created)
Date 09-Jan-2001 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11133745
RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F.,
RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash,
RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M.,
RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A.,
RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler,
RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K.
RefTitle V(D)J recombination defects in lymphocytes due to RAG
RefTitle mutations: severe immunodeficiency with a spectrum of
RefTitle clinical presentations
RefLoc Blood 97:81-88 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: HSRAG2X: 2622
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 2622
Feature /codon: aac -> agc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P55895; RAG2_HUMAN: 474
Feature /change: N -> S
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG2X: 2622
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 2622
Feature /codon: aac -> agc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P55895; RAG2_HUMAN: 474
Feature /change: N -> S
Diagnosis Combined immunodeficiency with maternal fetal transfusion
Symptoms Failure to thrive; Protracted diarrhea
Age at onset 1 week
WBC 2.8
Total lymphoc 1.12
Eosin n.d.
IgA 0.07
IgE 87 kU/I
IgG 6.7 maternally-derived
IgM 0.08
CD3 2
CD4 2
CD45RA <1
CD45R0 2
CD8 <1
CD16 70
CD19/CD20 <1
DR <1
PHA n.d.
MFT +
//
ID C478Y(1a),C478Y(1a); standard; MUTATION;
Accession S0001
Systematic name Allele 1 and 2: g.2634G>A, c.2634G>A, p.C478Y
Original code P5 ref [1]; P9a ref [2]
Description Allele 1 and 2; missense mutation in the exon 3
Date 19-Feb-1999 (Rel. 1, Created)
Date 09-Jan-2001 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 8810255
RefAuthors Schwarz, K., Gauss, G. H., Ludwig, L., Pannicke, U., Li,
RefAuthors Z., Lindner, D., Friedrich, W., Seger, R. A., Hansen-Hagge,
RefAuthors T. E., Desiderio, S., Lieber, M. R., Bartram, C. R.
RefTitle RAG mutations in human B cell-negative SCID
RefLoc Science 274:97-99 (1996)
RefNumber [2]
RefCrossRef PUBMED; 11133745
RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F.,
RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash,
RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M.,
RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A.,
RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler,
RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K.
RefTitle V(D)J recombination defects in lymphocytes due to RAG
RefTitle mutations: severe immunodeficiency with a spectrum of
RefTitle clinical presentations
RefLoc Blood 97:81-88 (2001)
DB CrossRef OMIM; 179616.0001
DB CrossRef SWISSCHANGE; RAG2_HUMAN_2
DB CrossRef UniProt; P55895:478_478
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: HSRAG2X: 2634
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 2634
Feature /codon: tgc -> tac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P55895; RAG2_HUMAN: 478
Feature /change: C -> Y
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG2X: 2634
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 2634
Feature /codon: tgc -> tac; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P55895; RAG2_HUMAN: 478
Feature /change: C -> Y
Diagnosis T and B cell-negative severe combined immunodeficiency
Age at onset birth
Relative RAG2; S0002 cousin
WBC 5.0
Total lymphoc 2.0
Eosin 0.25
IgA <0.1
IgE <2 kU/I
IgG 4.6
IgM <0.1
CD3 4
CD4 <1
CD45RA n.d.
CD45R0 n.d.
CD8 <1
CD16 41
CD19/CD20 <1
DR n.d.
PHA n.d.
MFT -
//
ID C478Y(1b),C478Y(1b); standard; MUTATION;
Accession S0002
Systematic name Allele 1 and 2: g.2634G>A, c.2634G>A, p.C478Y
Original code P6 ref [1]; P9b ref [2]
Description Allele 1 and 2; missense mutation in the exon 3
Date 19-Feb-1999 (Rel. 1, Created)
Date 09-Jan-2001 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 8810255
RefAuthors Schwarz, K., Gauss, G. H., Ludwig, L., Pannicke, U., Li,
RefAuthors Z., Lindner, D., Friedrich, W., Seger, R. A., Hansen-Hagge,
RefAuthors T. E., Desiderio, S., Lieber, M. R., Bartram, C. R.
RefTitle RAG mutations in human B cell-negative SCID
RefLoc Science 274:97-99 (1996)
RefNumber [2]
RefCrossRef PUBMED; 11133745
RefAuthors Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F.,
RefAuthors Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash,
RefAuthors M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M.,
RefAuthors Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A.,
RefAuthors Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Strina, D., Ugazio, A., Valiaho, J., Vihinen, M., Vogler,
RefAuthors L. B., Ochs, H., Vezzoni, P., Friedrich, W., Schwarz, K.
RefTitle V(D)J recombination defects in lymphocytes due to RAG
RefTitle mutations: severe immunodeficiency with a spectrum of
RefTitle clinical presentations
RefLoc Blood 97:81-88 (2001)
DB CrossRef OMIM; 179616.0001
DB CrossRef SWISSCHANGE; RAG2_HUMAN_2
DB CrossRef UniProt; P55895:478_478
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: HSRAG2X: 2634
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 2634
Feature /codon: tgc -> tac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P55895; RAG2_HUMAN: 478
Feature /change: C -> Y
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG2X: 2634
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; g2498830; HSRAG2X: 2634
Feature /codon: tgc -> tac; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P55895; RAG2_HUMAN: 478
Feature /change: C -> Y
Diagnosis Combined immunodeficiency with maternal fetal transfusion
Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia;
Symptoms Lymphoadenopathy; Hepatomegaly; Splenomegaly;
Age at onset 2 weeks
Relative RAG2; S0001 cousin
WBC 10
Total lymphoc 5.0
Eosin 2.0
IgA <0.05
IgE 3 kU/I
IgG 0.9
IgM <0.05
CD3 70
CD4 46
CD45RA n.d.
CD45R0 n.d.
CD8 21
CD16 41
CD19/CD20 <1
DR n.d.
PHA 12
MFT +
//
ID H481P(1),H481P(1); standard; MUTATION;
Accession S0022
Systematic name Allele 1 and 2: g.6510A>C, c.1442A>C, r.1442a>c,
Systematic name p.His481Pro
Original code RAG-SCID 3
Description Allele 1 and 2: a point mutation in the exon 1 leading to
Description an amino acid change
Date 24-Feb-2005 (Rel. 1, Created)
Date 24-Feb-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12200379
RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Verkaik, N. S.,
RefAuthors Vossen, J. M., de Groot, R., Bernatowska, E., Langerak, A.
RefAuthors W., van Gent, D. C., van Dongen, J. J.
RefTitle The immunophenotypic and immunogenotypic B-cell
RefTitle differentiation arrest in bone marrow of RAG-deficient
RefTitle SCID patients corresponds to residual recombination
RefTitle activities of mutated RAG proteins.
RefLoc Blood 100:2145-2152 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 6510
Feature /change: a -> c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 2643
Feature /codon: cat -> cct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: RAG2_HUMAN: 481
Feature /change: H -> P
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG2_DNA: 6510
Feature /change: a -> c
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M94633; GI:2498830; HSRAG2X: 2643
Feature /codon: cat -> cct; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: RAG2_HUMAN: 481
Feature /change: H -> P
Diagnosis T and B cell-negative severe combined immunodeficiency
Family history Inherited
Parents consanguineous
Comment Seemingly homozygous mutation, but deletion of the other
Comment allele was not ruled out.
//
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