Important notice for the users!

 

IDbases have been moved to Lund University and are available at

http://structure.bmc.lu.se/idbase/

They will remain for a while in this old address and will be removed in the future.

 

 

 

- databases for immunodeficiency-causing mutations

   RAG2base
   Mutation registry for  RAG2 deficiency


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.
//

This site is updated by Jouni Väliaho
© IBT Bioinformatics 1998-2013
Last modified 16.06.2011