Database RAG1base
Version 3.3
File rag1pub.html
Date 01-Mar-2019
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics
Address Lund University, BMC D10, SE-22184 Lund, Sweden
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/RAG1base/
FTP ftp://protein.uta.fi/pub/rag1pub.dat
IDR factfile http://structure.bmc.lu.se/idbase/xml/idr/ff/FF2.xml
Gene RAG1
Disease autosomal recessive RAG1 immunodeficiency
OMIM 179615
GDB 120334
Sequence IDRefSeq:D0071; IDRefSeq:C0071; UniProt:P15918
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: RAG2base
//
ID #P85-1(1),R716W(1); standard; MUTATION; SRP1,
Accession R0065
Systematic name Allele 1: g.6546_6548delCTA, c.254_256delCTA,
Systematic name r.254_256delcua, p.Pro85del
Systematic name Allele 2: g.8438C>T, c.2146C>T, r.2146c>u, p.Arg716Trp
Original code P46
Description Allele 1: An inframe deletion in the exon 2 leading to an
Description amino acid change in the SRP1 domain
Description Allele 2: A point mutation in the exon 2 leading to an
Description amino acid change in the SRP1 domain
Date 26-May-2008 (Rel. 1, Created)
Date 26-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: deletion
Feature /loc: IDRefSeq: RAG1_DNA: 6546..6548
Feature /change: -cta
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 366..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: SWISS-PROT: RAG1_HUMAN: 85..86
Feature /change: PK -> Q
Feature /domain: SRP1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8438
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2258
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 716
Feature /change: R -> W
Diagnosis Omenn Syndrome
WBC 13.7
IgA 0.07
IgG 5.12
IgM 0.18
CD3 32
CD4 30
CD4+CD45RA+ 1
CD4+CD45R0+ 99
CD8 1.2
//
ID #P85-1(2),&R829(2); standard; MUTATION; SRP1,BIV
Accession R0080
Systematic name Allele 1: g.6546_6548delCTA, c.254_256delCTA,
Systematic name r.254_256delcua, p.Pro85del
Description Allele 2: A complex mutation in the exon 2 leading to
Description an amino acid change in the BIV domain
Original code P65
Description Allele 1: An inframe deletion in the exon 2 leading to an
Description amino acid change in the SRP1 domain
Description Allele 2: A complex mutation in the exon 2 leading to an
Description amino acid change in the SRP1 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: deletion
Feature /loc: IDRefSeq: RAG1_DNA: 6546..6548
Feature /change: -cta
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 366..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: SWISS-PROT: RAG1_HUMAN: 85..86
Feature /change: PK -> Q
Feature /domain: SRP1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: complex
Feature /loc: IDRefSeq: RAG1_DNA: 8779..8780
Feature /change: ga -> tt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: complex
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2599..2600
Feature aa; 6
Feature /rnalink: 5
Feature /name: complex
Feature /loc: SWISS-PROT: RAG1_HUMAN: 829..830
Feature /change: RK -> SX
Feature /domain: BIV
Diagnosis Omenn Syndrome
//
ID #K86X118(1),#K86X118(1); standard; MUTATION;
Accession R0019
Systematic name Allele 1 and 2: g.368_369delAA, c.368_369delAA, p.K86fsX118
Original code OS8
Description Allele 1 and 2; frameshift deletion leading to stop codon
Description and premature termination
Date 01-Mar-1999 (Rel. 1, Created)
Date 09-Jan-2001 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 11121059
RefAuthors Santagata, S., Gomez, C. A., Sobacchim, C., Bozzi, F.,
RefAuthors Abinun, M., Pasic, S., Cortes, P., Vezzoni, P., Villa, A.
RefTitle N-terminal RAG1 frameshift mutations in Omenn's syndrome:
RefTitle internal methionine usage leads to partial V(D)J
RefTitle recombination activity and reveals a fundamental role in
RefTitle vivo for the N-terminal domains
RefLoc Proc. Natl. Acad. Sci. USA 97:14572-14577 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: HSRAG1: 368..369
Feature /change: -aa
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M29474; g131827; HSRAG1: 368..369
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 86
Feature /change: K -> VFKEISRQRE SKRQSDPSSQ PSTSLPHLWE FFX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: HSRAG1: 368..369
Feature /change: -aa
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M29474; g131827; HSRAG1: 368..369
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 86
Feature /change: K -> VFKEISRQRE SKRQSDPSSQ PSTSLPHLWE FFX
Symptoms Omenn syndrome
//
ID #K86X118(2),D429G(1); standard; MUTATION;
Accession R0007
Systematic name Allele 1: g.368_369delAA, c.368_369delAA, p.K86fsX118
Systematic name Allele 2: g.1398A>G, c.1398A>G, p.D429G
Original code OS5 ref [1,3]; P1 ref [2]; P21 ref [4]
Description Allele 1; frameshift deletion leading to absent protein
Description Allele 2; missense mutation leading to amino acid change
Description in homeodomain, homodimerization
Date 22-Feb-1999 (Rel. 1, Created)
Date 09-Jan-2001 (Rel. 1, Last updated, Version 3)
RefNumber [1]
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 [2]
RefCrossRef PUBMED; 10701853
RefAuthors Villa, A., Bozzi, F., Sobacchi, C., Strina, D., Fasth,
RefAuthors A., Pasic, S., Notarangelo, L. D., Vezzoni, P.
RefTitle Prenatal diagnosis of RAG-deficient Omenn syndrome
RefLoc Prenat. Diagn. 20:56-59 (2000)
RefNumber [3]
RefCrossRef PUBMED; 11121059
RefAuthors Santagata, S., Gomez, C. A., Sobacchim, C., Bozzi, F.,
RefAuthors Abinun, M., Pasic, S., Cortes, P., Vezzoni, P., Villa, A.
RefTitle N-terminal RAG1 frameshift mutations in Omenn's syndrome:
RefTitle internal methionine usage leads to partial V(D)J
RefTitle recombination activity and reveals a fundamental role in
RefTitle vivo for the N-terminal domains
RefLoc Proc. Natl. Acad. Sci. USA 97:14572-14577 (2000)
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; 179615.0013
DB CrossRef OMIM; 179615.0009
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: HSRAG1: 368..369
Feature /change: -aa
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M29474; g131827; HSRAG1: 368..369
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 86
Feature /change: K -> VFKEISRQRE SKRQSDPSSQ PSTSLPHLWE FFX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG1: 1398
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1398
Feature /codon: gat -> ggt; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 429
Feature /change: D -> G
Diagnosis Leaky severe combined immunodeficiency
Symptoms Failure to thrive; Erythrodermia; Skin rash; Protracted
Symptoms diarrhea
Age at onset 1.5 months
WBC 10.6
Total lymphoc 0.6
Eosin 1.36
IgA <0.06
IgE 500 kU/I
IgG 3.5
IgM <0.1
CD3 16
CD4 11
CD45RA <5
CD45R0 >90
CD8 10
CD16 57
CD19/CD20 <1
DR 25
PHA 3
MFT -
//
ID #K86X118(3),R624C(1); standard; MUTATION;
Accession R0036
Systematic name Allele 1: g.368_369delAA, c.368_369delAA, p.K86fsX118
Systematic name Allele 2: g.1982C>T, c.1982C>T, p.R624C
Original code OS9 ref [1]; P39 ref [2]
Description Allele 1; frameshift deletion in the exon 2 leading to
Description stop codon and premature termination
Description Allele 2; missense mutation in the exon 2
Date 21-Mar-2000 (Rel. 1, Created)
Date 09-Jan-2001 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 11121059
RefAuthors Santagata, S., Gomez, C. A., Sobacchim, C., Bozzi, F.,
RefAuthors Abinun, M., Pasic, S., Cortes, P., Vezzoni, P., Villa, A.
RefTitle N-terminal RAG1 frameshift mutations in Omenn's syndrome:
RefTitle internal methionine usage leads to partial V(D)J
RefTitle recombination activity and reveals a fundamental role in
RefTitle vivo for the N-terminal domains
RefLoc Proc. Natl. Acad. Sci. USA 97:14572-14577 (2000)
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: deletion
Feature /loc: EMBL: HSRAG1: 368..369
Feature /change: -aa
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M29474; g131827; HSRAG1: 368..369
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 86
Feature /change: K -> VFKEISRQRE SKRQSDPSSQ PSTSLPHLWE FFX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG1: 1982
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1982
Feature /codon: cgt -> tgt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 624
Feature /change: R -> C
Diagnosis Omenn syndrome
Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia;
Symptoms Lymphoadenopathy; Hepatomegaly; Splenomegaly;
Symptoms Protracted diarrhea
Age at onset 1 month
WBC 24.2
Total lymphoc 15.0
Eosin 3.0
IgA 0.10
IgE 2000 kU/I
IgG 0.60
IgM 0.13
CD3 80
CD4 50
CD45RA 21
CD45R0 79
CD8 18
CD16 5
CD19/CD20 0.9
DR 35
PHA 2.6
MFT -
//
ID #K86X118(4),@V643X651(1); standard; MUTATION;
Accession R0011
Systematic name Allele 1: g.368_369delAA, c.368_369delAA, p.K86fsX118
Systematic name Allele 2: g.2038_2039insCAGCTCTCAGAATGTGAAA,
Systematic name c.2038_2039insCAGCTCTCAGAATGTGAAA, p.V643fsX651
Original code OS12
Description Allele 1; frameshift deletion in the exon 2 leading to
Description stop codon and premature termination
Description Allele 2; duplication of 19 bp leading to frameshift and premature
Description termination
Date 26-Feb-1999 (Rel. 1, Created)
Date 26-Jul-2000 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 11121059
RefAuthors Santagata, S., Gomez, C. A., Sobacchim, C., Bozzi, F.,
RefAuthors Abinun, M., Pasic, S., Cortes, P., Vezzoni, P., Villa, A.
RefTitle N-terminal RAG1 frameshift mutations in Omenn's syndrome:
RefTitle internal methionine usage leads to partial V(D)J
RefTitle recombination activity and reveals a fundamental role in
RefTitle vivo for the N-terminal domains
RefLoc Proc. Natl. Acad. Sci. USA 97:14572-14577 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: HSRAG1: 368..369
Feature /change: -aa
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M29474; g131827; HSRAG1: 368..369
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 86
Feature /change: K -> VFKEISRQRE SKRQSDPSSQ PSTSLPHLWE FFX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: EMBL: HSRAG1: 2039
Feature /change: +cagctctcag aatgtgaaa
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M29474; g131827; HSRAG1: 2039
Feature /note: duplication of 19 bp 2020..2038
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 643
Feature /change: V -> QLSECESIX
Symptoms B cell-negative severe combined immunodeficiency
//
ID #K86X118(5),E722K(2); standard; MUTATION;
Accession R0022
Systematic name Allele 1: g.368_369delAA, c.368_369delAA, p.K86fsX118
Systematic name Allele 2: g.2276G>A, c.2276G>A, p.E722K
Original code P2 ref [1]; OS10 ref [2]; P38 ref [3]
Description Allele 1; frameshift deletion in the exon 2 leading to
Description stop codon and premature termination
Description Allele 2; missense mutation in the exon 2
Date 01-Mar-1999 (Rel. 1, Created)
Date 09-Jan-2001 (Rel. 1, Last updated, Version 4)
RefNumber [1]
RefCrossRef PUBMED; 10701853
RefAuthors Villa, A., Bozzi, F., Sobacchi, C., Strina, D., Fasth,
RefAuthors A., Pasic, S., Notarangelo, L. D., Vezzoni, P.
RefTitle Prenatal diagnosis of RAG-deficient Omenn syndrome
RefLoc Prenat. Diagn. 20:56-59 (2000)
RefNumber [2]
RefCrossRef PUBMED; 11121059
RefAuthors Santagata, S., Gomez, C. A., Sobacchim, C., Bozzi, F.,
RefAuthors Abinun, M., Pasic, S., Cortes, P., Vezzoni, P., Villa, A.
RefTitle N-terminal RAG1 frameshift mutations in Omenn's syndrome:
RefTitle internal methionine usage leads to partial V(D)J
RefTitle recombination activity and reveals a fundamental role in
RefTitle vivo for the N-terminal domains
RefLoc Proc. Natl. Acad. Sci. USA 97:14572-14577 (2000)
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)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: HSRAG1: 368..369
Feature /change: -aa
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M29474; g131827; HSRAG1: 368..369
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 86
Feature /change: K -> VFKEISRQRE SKRQSDPSSQ PSTSLPHLWE FFX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG1: 2276
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 2276
Feature /codon: gag -> aag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 722
Feature /change: E -> K
Diagnosis Omenn syndrome
Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia;
Symptoms Lymphoadenopathy; Hepatomegaly; Splenomegaly;
Symptoms Protracted diarrhea
Age at onset 1.5 months
WBC 10.5
Total lymphoc 2.9
Eosin 1.47
IgA 0.13
IgE 1938 kU/I
IgG 0.70
IgM 0.11
CD3 49
CD4 44
CD45RA <1
CD45R0 97
CD8 12
CD16 26
CD19/CD20 3.9
DR 28
PHA <
MFT n.d.
//
ID #K86X118(6),K830X(2); standard; MUTATION;
Accession R0021
Systematic name Allele 1: g.368_369delAA, c.368_369delAA, p.K86fsX118
Systematic name Allele 2: g.2599_2600delGAinsTT, c.2599_2600delGAinsTT,
Systematic name p.R829_K830delinsSX
Original code OS11
Description Allele 1; frameshift deletion leading to stop codon and
Description premature termination
Description Allele 2; complex mutation leading to stop codon and
Description premature termination
Date 01-Mar-1999 (Rel. 1, Created)
Date 21-Mar-2000 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11121059
RefAuthors Santagata, S., Gomez, C. A., Sobacchim, C., Bozzi, F.,
RefAuthors Abinun, M., Pasic, S., Cortes, P., Vezzoni, P., Villa, A.
RefTitle N-terminal RAG1 frameshift mutations in Omenn's syndrome:
RefTitle internal methionine usage leads to partial V(D)J
RefTitle recombination activity and reveals a fundamental role in
RefTitle vivo for the N-terminal domains
RefLoc Proc. Natl. Acad. Sci. USA 97:14572-14577 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: HSRAG1: 368..369
Feature /change: -aa
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M29474; g131827; HSRAG1: 368..369
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 86
Feature /change: K -> VFKEISRQRE SKRQSDPSSQ PSTSLPHLWE FFX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: complex
Feature /change: ga -> tt
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: complex
Feature /loc: EMBL: M29474; G190843; HSRAG1: 2599..2600
Feature /codon: agg -> agt; 3
Feature /codon: aaa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: complex
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 829..830
Feature /change: RK -> SX
Symptoms Omenn syndrome
//
ID #K86X118(7),Y333X(1); standard; MUTATION; I,
Accession R0049
Systematic name Allele 1: g.6548_6549delAA, c.256_257delAA, r.256_257delaa,
Systematic name p.Lys86fsX33
Systematic name Allele 2: g.7291T>A, c.999T>A, r.999u>a, p.Tyr333X
Original code OM8
Description Allele 1: a frame shift deletion mutation in the exon 2
Description leading to a premature stop codon in the I domain
Description Allele 2: a point mutation in the exon 2 leading to a
Description premature stop codon
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)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: RAG1_DNA: 6548..6549
Feature /change: -aa
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 368..369
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 86
Feature /change: K -> VFKEISRQRE SKRQSDPSSQ PSTSLPHLWE FFX
Feature /domain: I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7291
Feature /change: t -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1111
Feature /codon: tat -> taa; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 333
Feature /change: Y -> X
Diagnosis Omenn Syndrome
Symptoms Infections:
Symptoms Failure to thrive; Erythrodermia; Protracted diarrhea;
Symptoms Others:
Symptoms eosinophilia
Age 4 month
Sex XX
Family history Inherited
Total lymphoc 22400
Eosinophils nd
IgE nd
CD19 0
//
ID #K86X118(8),#K86X118(8); standard; MUTATION; SRP1,SRP1
Accession R0062
Systematic name Allele 1 and 2: g.6548_6549delAA, c.256_257delAA,
Systematic name r.256_257delaa, p.Lys86fsX33
Original code P4
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the SRP1 domain
Date 26-May-2008 (Rel. 1, Created)
Date 26-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16276422
RefAuthors de Villartay, J. P., Lim, A., Al-Mousa, H., Dupont, S.,
RefAuthors Dechanet-Merville, J., Coumau-Gatbois, E., Gougeon, M. L.,
RefAuthors Lemainque, A., Eidenschenk, C., Jouanguy, E., Abel, L.,
RefAuthors Casanova, J. L., Fischer, A., Le Deist, F.
RefTitle A novel immunodeficiency associated with hypomorphic RAG1
RefTitle mutations and CMV infection.
RefLoc J Clin Invest:3291-3299 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: RAG1_DNA: 6548..6549
Feature /change: -aa
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 368..369
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 86
Feature /change: K -> VFKEISRQRE SKRQSDPSSQ PSTSLPHLWE FFX
Feature /domain: SRP1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: RAG1_DNA: 6548..6549
Feature /change: -aa
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 368..369
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 86
Feature /change: K -> VFKEISRQRE SKRQSDPSSQ PSTSLPHLWE FFX
Feature /domain: SRP1
Symptoms Others:
Symptoms severe persistent CMV infection, anemia
Age 0,5
Sex XX
Ethnic origin Caucasoid; Turkey
Total lymphoc 3.5
IgA 0
IgM 2.7
CD3 55
CD4 4
CD8 4
CD19 12
Comment Diagnosis: Immunodeficiency with gamma-delta-T cell
Comment expansion and autoimmunity
//
ID #K86X118(9),#K86X118(9); standard; MUTATION; SRP1,SRP1
Accession R0084
Systematic name Allele 1 and 2: g.6548_6549delAA, c.256_257delAA,
Systematic name r.256_257delaa, p.Lys86fsX33
Original code Case2
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the SRP1 domain
Date 16-Jun-2010 (Rel. 1, Created)
Date 16-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19458910
RefAuthors Karaca, N. E., Aksu, G., Genel, F., Gulez, N., Can, S.,
RefAuthors Aydinok, Y., Aksoylar, S., Karaca, E., Altuglu, I.,
RefAuthors Kutukculer, N.
RefTitle Diverse phenotypic and genotypic presentation of RAG1
RefTitle mutations in two cases with SCID.
RefLoc Clin Exp Med:339-342 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: RAG1_DNA: 6548..6549
Feature /change: -aa
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 368..369
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 86
Feature /change: K -> VFKEISRQRE SKRQSDPSSQ PSTSLPHLWE FFX
Feature /domain: SRP1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: RAG1_DNA: 6548..6549
Feature /change: -aa
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 368..369
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 86
Feature /change: K -> VFKEISRQRE SKRQSDPSSQ PSTSLPHLWE FFX
Feature /domain: SRP1
Symptoms Infections:
Symptoms Failure to thrive; Pneumonia; Hepatomegaly; Splenomegaly;
Symptoms Others:
Symptoms growth retardation, autoimmune haemolytic anemia, thrombocytopenia
Age 0.9
Sex XY
IgA 0.53
IgG 15.50
IgM 0.76
//
ID K136Q(1),C192Y(1); standard; MUTATION;
Accession R0066
Systematic name Allele 1: g.6698A>C, c.406A>C, r.406a>c, p.Lys136Gln
Systematic name Allele 2: g.6867G>A, c.575G>A, r.575g>a, p.Cys192Tyr
Original code P49
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the exon 2 leading to an
Description amino acid change
Date 26-May-2008 (Rel. 1, Created)
Date 26-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: RAG1_DNA: 6698
Feature /change: a -> c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 518
Feature /codon: aaa -> caa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 136
Feature /change: K -> Q
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 6867
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 687
Feature /codon: tgt -> tat; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 192
Feature /change: C -> Y
Diagnosis Omenn Syndrome
Symptoms Infections:
Symptoms Failure to thrive; Erythrodermia; Skin rash; Protracted
Symptoms diarrhea;
Symptoms Others:
Symptoms generalised oedema
Age <0.1
WBC 48.7
IgA <0.0007
IgE 120
IgG 0.0045
IgM 0.0007
CD3 74
CD4 26
CD8 32
//
ID R142X(1),R396H(3); standard; MUTATION; BI,INV
Accession R0093
Systematic name Allele 1: g.6716C>T, c.424C>T, r.424c>u, p.Arg142X
Systematic name Allele 2: g.7479G>A, c.1187G>A, r.1187g>a, p.Arg396His
Original code Case5
Description Allele 1: A point mutation in the exon 2 leading to a
Description premature stop codon in the BI domain
Description Allele 2: A point mutation in the exon 2 leading to an
Description amino acid change in the INV domain
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17075247
RefAuthors Kato, M., Kimura, H., Seki, M., Shimada, A., Hayashi, Y.,
RefAuthors Morio, T., Kumaki, S., Ishida, Y., Kamachi, Y., Yachie, A.
RefTitle Omenn syndrome--review of several phenotypes of omenn
RefTitle syndrome and RAG1/RAG2 mutations in japan.
RefLoc Allergol Int:115-119 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 6716
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 536
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 142
Feature /change: R -> X
Feature /domain: BI
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7479
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1299
Feature /codon: cgc -> cac; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 396
Feature /change: R -> H
Feature /domain: INV
Diagnosis Omenn Syndrome
Symptoms Others:
Symptoms Poor growth weight; Respiratory distress;
Age 10 mo
Ethnic origin Japan
//
ID #T173X200(1),#T173X200(1); standard; MUTATION;
Accession R0040
Systematic name Allele 1 and 2: g.631delT, c.631delT, p.T173fsX200
Original code ARSCID1
Description Allele 1 and 2; frameshift deletion in the exon 2
Date 03-Jul-2000 (Rel. 1, Created)
Date 03-Jul-2000 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (03-Jul-2000) to RAG1base.
RefLoc J.G. Noordzij, J.J.M. van Dongen, Dept. of Immunology,
RefLoc Erasmus University Rotterdam, P.O.Box 1738, 3000DR
RefLoc Rotterdam, The Netherlands, Tel +31-104088090,
RefLoc Fax +31-104089456, e-mail vandongen@immu.fgg.eur.nl
RefNumber [2]
RefCrossRef PUBMED; 10891452
RefAuthors Noordzij, J. G., Verkaik, N. S., Hartwig, N. G., de Groot,
RefAuthors R., van Gent, D. C., van Dongen, J. J. M.
RefTitle N-terminal truncated human RAG1 proteins can direct T-cell
RefTitle receptor but not immunoglobulin gene rearrangements
RefLoc Blood 96:203-209 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: HSRAG1: 631
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M29474; g131827; HSRAG1: 631
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 173
Feature /change: T -> TSSAITAGAS CTGSFAVPHV RFTSRGTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: HSRAG1: 631
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M29474; g131827; HSRAG1: 631
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 173
Feature /change: T -> TSSAITAGAS CTGSFAVPHV RFTSRGTX
Diagnosis Omenn Syndrome
Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia;
Symptoms Lymphoadenopathy; Hepatomegaly; Splenomegaly;
Age at onset 0 months
Sex F
Ethnic origin Maroc
WBC 69x10E9/l
Total lymphoc 60x10E9/l
Eosin 1x10E9/l
IgA <0.10
IgG 2.73
IgM 0.11
CD3 66
CD4 35
CD45R0 66
CD8 59
//
ID #T173X200(2),#T173X200(2); standard; MUTATION; I,I
Accession R0044
Systematic name Allele 1 and 2: g.6811delT, c.519delT, r.519delu,
Systematic name p.Glu174fsX27
Original code OM3
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon 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)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: RAG1_DNA: 6811
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 631
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 173
Feature /change: T -> TSSAITAGAS CTGSLAVPHV RFTSRGTX
Feature /domain: I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: RAG1_DNA: 6811
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 631
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 173
Feature /change: T -> TSSAITAGAS CTGSLAVPHV RFTSRGTX
Feature /domain: I
Diagnosis Omenn Syndrome
Symptoms Infections:
Symptoms Failure to thrive; Erythrodermia; Protracted diarrhea;
Symptoms Others:
Symptoms eosinophilia
Age at onset 2 month
Sex XY
Family history inherited
Parents consanguineous
Total lymphoc 19500
Eosinophils 10700
IgE 38300
CD19 0
//
ID #T173X200(3),#T173X200(3); standard; MUTATION; I,I
Accession R0046
Systematic name Allele 1 and 2: g.6811delT, c.519delT, r.519delu,
Systematic name p.Glu174fsX27
Original code OM5
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon 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)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: RAG1_DNA: 6811
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 631
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 173
Feature /change: T -> TSSAITAGAS CTGSLAVPHV RFTSRGTX
Feature /domain: I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: RAG1_DNA: 6811
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 631
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 173
Feature /change: T -> TSSAITAGAS CTGSLAVPHV RFTSRGTX
Feature /domain: I
Diagnosis Omenn Syndrome
Symptoms Infections:
Symptoms Failure to thrive; Erythrodermia; Protracted diarrhea;
Symptoms Others:
Symptoms eosinophilia
Age 0.2 month
Sex XX
Family history Inherited
Parents consanguineous
Total lymphoc 12700
Eosinophils 5600
IgE nd
//
ID #T173X200(4),#T173X200(4); standard; MUTATION; I,I
Accession R0051
Systematic name Allele 1 and 2: g.6811delT, c.519delT, r.519delu,
Systematic name p.Glu174fsX27
Original code P52
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 2 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; 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)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: RAG1_DNA: 6811
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 631
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 173
Feature /change: T -> TSSAITAGAS CTGSLAVPHV RFTSRGTX
Feature /domain: I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: RAG1_DNA: 6811
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 631
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 173
Feature /change: T -> TSSAITAGAS CTGSLAVPHV RFTSRGTX
Feature /domain: I
Diagnosis T and B cell-negative severe combined immunodeficiency
Symptoms Infections:
Symptoms Failure to thrive; Erythrodermia; Protracted diarrhea;
Symptoms Others:
Symptoms eosinophilia
Family history Inherited
Parents consanguineous
//
ID #T173X200(5),#T173X200(5); standard; MUTATION;
Accession R0059
Systematic name Allele 1 and 2: g.6811delT, c.519delT, r.519delu,
Systematic name p.Glu174fsX27
Original code P1
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon
Date 26-May-2008 (Rel. 1, Created)
Date 26-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16276422
RefAuthors de Villartay, J. P., Lim, A., Al-Mousa, H., Dupont, S.,
RefAuthors Dechanet-Merville, J., Coumau-Gatbois, E., Gougeon, M. L.,
RefAuthors Lemainque, A., Eidenschenk, C., Jouanguy, E., Abel, L.,
RefAuthors Casanova, J. L., Fischer, A., Le Deist, F.
RefTitle A novel immunodeficiency associated with hypomorphic RAG1
RefTitle mutations and CMV infection.
RefLoc J Clin Invest:3291-3299 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: RAG1_DNA: 6811
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 631
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 173
Feature /change: T -> TSSAITAGAS CTGSLAVPHV RFTSRGTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: RAG1_DNA: 6811
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 631
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 173
Feature /change: T -> TSSAITAGAS CTGSLAVPHV RFTSRGTX
Symptoms Others:
Symptoms severe persistent CMV infection
Age 0,25
Sex XY
Ethnic origin Caucasoid; Algeria
Total lymphoc 1.1-1.4
Eosinophils 0.2-0.8
IgA 7
IgG <2
IgM 26
CD3 30
CD4 5
CD8 5
CD19 0
Comment Diagnosis: immunodeficiency with gamma-delta-T cell
Comment expansion and autoimmunity
//
ID #T173X200(6),#T173X200(6); standard; MUTATION;
Accession R0082
Systematic name Allele 1 and 2: g.6811delT, c.519delT, r.519delu,
Systematic name p.Glu174fsX27
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon
Date 16-Jun-2010 (Rel. 1, Created)
Date 16-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19011808
RefAuthors Jaouad, I. C., Ouldim, K., Ali Ou Alla, S., Kriouile, Y.,
RefAuthors Villa, A., Sefiani, A.
RefTitle Omenn syndrome with mutation in RAG1 gene.
RefLoc Indian J Pediatr:944-946 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: RAG1_DNA: 6811
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 631
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 173
Feature /change: T -> TSSAITAGAS CTGSLAVPHV RFTSRGTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: RAG1_DNA: 6811
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 631
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 173
Feature /change: T -> TSSAITAGAS CTGSLAVPHV RFTSRGTX
Diagnosis Omenn Syndrome
Symptoms Infections:
Symptoms Failure to thrive; Erythrodermia; Lymphoadenopathy;
Symptoms Hepatomegaly; Splenomegaly; Protracted diarrhea;
Symptoms Others:
Symptoms alopecia
Age 0.3
Sex XX
Ethnic origin Morocco
CD3 50
CD4 23
CD8 19
//
ID Q248X(1),Q248X(1); standard; MUTATION; BIII,BIII
Accession R0064
Systematic name Allele 1 and 2: g.7034C>T, c.742C>T, r.742c>u, p.Gln248X
Original code P44
Description Allele 1 and 2: A point mutation in the exon 2 leading to a
Description premature stop codon in the BIII domain
Date 26-May-2008 (Rel. 1, Created)
Date 26-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: RAG1_DNA: 7034
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 854
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 248
Feature /change: Q -> X
Feature /domain: BIII
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7034
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 854
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 248
Feature /change: Q -> X
Feature /domain: BIII
Diagnosis T and B cell-negative severe combined immunodeficiency
Age 0.04
WBC 26.3
IgA 0.126
IgE 1130
IgG 13
IgM 0.249
CD3 60
CD4 44
CD8 26
Comment suspected maternal T-cell engraftment
//
ID R249H/R841W(1),R249H/R841W(1); standard; MUTATION;
ID BIII/BIV,BIII/BIV
Accession R0086
Systematic name Allele 1 and 2: g.[7038G>A;8813C>T], c.[746G>A;2521C>T],
Systematic name r.[746g>a;2521c>u], p.[Arg249His;Arg841Trp]
Description Allele 1 and 2: Two point mutations in the exon 2 leading
Description to one amino acid change in the BIII domain and one
Description aminoacid change in BIV domain
Date 22-Jun-2010 (Rel. 1, Created)
Date 22-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18592361
RefAuthors Ohm-Laursen, L., Nielsen, C., Fisker, N., Lillevang, S.
RefAuthors T., Barington, T.
RefTitle Lack of nonfunctional B-cell receptor rearrangements in a
RefTitle patient with normal B cell numbers despite partial RAG1
RefTitle deficiency and atypical SCID/omenn syndrome.
RefLoc J Clin Immunol:588-592 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7038
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8813
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 858
Feature /codon: cgc -> cac; 2
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2633
Feature /codon: cgg -> tgg; 1
Feature aa; 5
Feature /rnalink: 3
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 249
Feature /change: R -> H
Feature /domain: BIII
Feature aa; 6
Feature /rnalink: 4
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 841
Feature /change: R -> W
Feature /domain: BIV
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 9
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7038
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature dna; 8
Feature /rnalink: 10
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8813
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 9
Feature /dnalink: 7
Feature /aalink: 11
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 858
Feature /codon: cgc -> cac; 2
Feature rna; 10
Feature /dnalink: 8
Feature /aalink: 12
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2633
Feature /codon: cgg -> tgg; 1
Feature aa; 11
Feature /rnalink: 9
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 249
Feature /change: R -> H
Feature /domain: BIII
Feature aa; 12
Feature /rnalink: 10
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 841
Feature /change: R -> W
Feature /domain: BIV
Diagnosis Omenn Syndrome
Symptoms Infections:
Symptoms Failure to thrive; Pneumonia; Protracted diarrhea;
Symptoms Others:
Symptoms erythrodermic nonpruritic eczema
Symptoms several respiratory
Age 0.2
Sex XY
Ethnic origin Palestine
WBC 6.6
Total lymphoc 1.0
Eosinophils 1.3
IgA 0.09
IgG 4.0
IgM 1.24
//
ID #A255X263(1),R404Q(2); standard; MUTATION; ,INV
Accession R0074
Systematic name Allele 1: g.7057delA, c.765delA, r.765dela, p.Arg256fsX8
Systematic name Allele 2: g.7503G>A, c.1211G>A, r.1211g>a, p.Arg404Gln
Original code P59
Description Allele 1: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon
Description Allele 2: A point mutation in the exon 2 leading to an
Description amino acid change
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: deletion
Feature /loc: IDRefSeq: RAG1_DNA: 7057
Feature /change: -a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 877
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 255
Feature /change: A -> AGSAARMSX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7503
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1323
Feature /codon: cgg -> cag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 404
Feature /change: R -> Q
Feature /domain: INV
Diagnosis Omenn Syndrome
//
ID #S259X263(1),#S259X263(1); standard; MUTATION;
Accession R0041
Systematic name Allele 1 and 2: g.887delA, c.887delA, p.S259fsX263
Original code OS13
Description Allele 1 and 2; frameshift deletion in the exon 2
Date 25-Jan-2001 (Rel. 1, Created)
Date 25-Jan-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11121059
RefAuthors Santagata, S., Gomez, C. A., Sobacchim, C., Bozzi, F.,
RefAuthors Abinun, M., Pasic, S., Cortes, P., Vezzoni, P., Villa, A.
RefTitle N-terminal RAG1 frameshift mutations in Omenn's syndrome:
RefTitle internal methionine usage leads to partial V(D)J
RefTitle recombination activity and reveals a fundamental role in
RefTitle vivo for the N-terminal domains
RefLoc Proc. Natl. Acad. Sci. USA 97:14572-14577 (2000)
DB CrossRef OMIM; 179615.0014
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: HSRAG1: 887
Feature /change: -a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M29474; g131827; HSRAG1: 887
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 259
Feature /change: S -> ARMSX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: HSRAG1: 887
Feature /change: -a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M29474; g131827; HSRAG1: 887
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 259
Feature /change: S -> ARMSX
Diagnosis Omenn syndrome
//
ID R314W(1),R507W/R737H(1); standard; MUTATION; ZRF,?/ZFB
Accession R0088
Systematic name Allele 1: g.7232C>T, c.940C>T, r.940c>u, p.Arg314Trp
Systematic name Allele 2: g.[7811C>T;8502G>A], c.[1519C>T;2210G>A],
Systematic name r.[1519c>u;2210g>a], p.[Arg507Trp;Arg737His]
Original code P.1
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change in the ZRF domain
Description Allele 2: Two point mutations in the exon 2 leading to
Description two amino acids changes, one in ZFB domain.
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: RAG1_DNA: 7232
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1052
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 314
Feature /change: R -> W
Feature /domain: ZRF
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 6
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7811
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature dna; 5
Feature /rnalink: 7
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8502
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 6
Feature /dnalink: 4
Feature /aalink: 8
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1631
Feature /codon: cgg -> tgg; 1
Feature rna; 7
Feature /dnalink: 5
Feature /aalink: 9
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2322
Feature /codon: cgt -> cat; 2
Feature aa; 8
Feature /rnalink: 6
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 507
Feature /change: R -> W
Feature aa; 9
Feature /rnalink: 7
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 737
Feature /change: R -> H
Feature /domain: ZFB
Diagnosis T and B cell-negative severe combined immunodeficiency
Symptoms Skin lesions; Parakeratosis; Epidermal hyperplasia;
Age 3
Sex XX
IgA <6 mg/dl
IgE <4.4 IU/ml
IgG 92-209 mg/dl
IgM <5 mg/dl
Comment Patient had received stem-cell transplantation from a
Comment matched unrelated donor.
//
ID C328Y(1),C328Y(1); standard; MUTATION;
Accession R0023
Systematic name Allele 1 and 2: g.1095G>A, c.1095G>A, p.C328Y
Original code P28
Description Allele 1 and 2; missense mutation in the exon 2
Date 01-Mar-1999 (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: HSRAG1: 1095
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1095
Feature /codon: tgt -> tat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 328
Feature /change: C -> Y
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG1: 1095
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1095
Feature /codon: tgt -> tat; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 328
Feature /change: C -> Y
Diagnosis Omenn syndrome
Symptoms Skin rash; Pneumonia; Lymphoadenopathy; Hepatomegaly;
Symptoms Protracted diarrhea
Age at onset 3 months
WBC 1.0
Total lymphoc 0.64
Eosin 0.01
IgA 0.52
IgE 19.9 kU/I
IgG 4.93
IgM 0.29
CD3 58
CD4 26
CD45RA 2.7
CD45R0 96.3
CD8 27
CD16 30
CD19/CD20 <1
DR 50
PHA 2.5
MFT -
//
ID #P329X344(1),#P329X344(1); standard; MUTATION; ZRF,ZRF
Accession R0099
Systematic name Allele 1 and 2: g.7279delC, c.987delC, r.987delc,
Systematic name p.Ser330fsX15
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the ZRF domain
Date 28-Feb-2019 (Rel. 1, Created)
Date 28-Feb-2019 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (28-Feb-2019) to RAG1base.
RefLoc GIGLIOLA DI MATTEO; Via Montpellier, 1; Tel +390672596492;
RefLoc e-mail di.matteo@med.uniroma2.it
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: RAG1_DNA: 7279
Feature /change: -c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1099
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 329
Feature /change: P -> PLADIHASLL TWRVQX
Feature /domain: ZRF
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: RAG1_DNA: 7279
Feature /change: -c
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1099
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 329
Feature /change: P -> PLADIHASLL TWRVQX
Feature /domain: ZRF
Diagnosis T and B cell-negative severe combined immunodeficiency
Age 1,3
Sex XY
Ethnic origin Caucasoid; Italia
Family history Not known
//
ID #L354X356(1),L872X(2); standard; MUTATION;
Accession R0027
Systematic name Allele 1: g.1173delT, c.1173delT, p.L354fsX356
Systematic name Allele 2: g.2727T>A, c.2727T>A, p.L872X
Original code P7
Description Allele 1; frameshift deletion in the exon 2 and
Description Allele 2; nonsense mutation in the exon 2 leading to stop
Description codons 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: deletion
Feature /loc: EMBL: HSRAG1: 1173
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1173
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 354
Feature /change: L -> RWX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG1: 2727
Feature /change: t -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 2727
Feature /codon: tta -> taa; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 872
Feature /change: F -> X
Diagnosis T and B cell-negative severe combined immunodeficiency
Symptoms Skin rash;
Age at onset 1 week
WBC 11.3
Total lymphoc 4.18
Eosin 0.34
IgA 0.69
IgE n.d.
IgG 9.33 maternally-derived
IgM 0.56
CD3 1
CD4 3
CD45RA n.d.
CD45R0 n.d.
CD8 42
CD16 64
CD19/CD20 <1
DR n.d.
PHA 13
MFT -
//
ID #S382X402(1),#S382X402(1); standard; MUTATION;
Accession R0012
Systematic name Allele 1 and 2: g.1258delA, c.1258delA, p.S382fsX402
Original code P15
Description Allele 1 and 2; frameshift deletion leading to stop codon
Description and premature termination
Date 26-Feb-1999 (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: deletion
Feature /loc: EMBL: HSRAG1: 1258
Feature /change: -a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1258
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 382
Feature /change: S -> SKRFFCTFIK GAGPANIFCR X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: HSRAG1: 1258
Feature /change: -a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1258
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 382
Feature /change: S -> SKRFFCTFIK GAGPANIFCR X
Diagnosis Combined immunodeficiency with maternal fetal transfusion
Symptoms Failure to thrive; Skin rash; Pneumonia; Lymphoadenopathy;
Symptoms Protracted diarrhea
Age at onset 1 month
WBC 20.6
Total lymphoc 1.6
Eosin n.a.
IgA 1.91
IgE <2 kU/I
IgG 1.79
IgM 1.75
CD3 43.7
CD4 39.4
CD45RA <1
CD45R0 93.8
CD8 4
CD16 36.1
CD19/CD20 2
DR n.a.
PHA 17
MFT +
//
ID R394W(1),R394W(1); standard; MUTATION; INV,INV
Accession R0063
Systematic name Allele 1 and 2: g.7472C>T, c.1180C>T, r.1180c>u,
Systematic name p.Arg394Trp
Original code P42
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change in the INV domain
Date 26-May-2008 (Rel. 1, Created)
Date 26-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: RAG1_DNA: 7472
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1292
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 394
Feature /change: R -> W
Feature /domain: INV
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7472
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1292
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 394
Feature /change: R -> W
Feature /domain: INV
Diagnosis Omenn Syndrome
Symptoms Infections:
Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia;
Symptoms Lymphoadenopathy; Hepatomegaly; Protracted diarrhea;
Symptoms Others:
Symptoms Recurrent URTI, Generalised oedema
Age 0,2
WBC 11.4
IgA <0.234
IgE 5.38
IgG <1.35
IgM <0.171
CD3 54.7
CD4 47.5
CD4+CD45RA+ 42.5
CD4+CD45R0+ 58
CD8 6.75
//
ID R394W(2),R394W(2); standard; MUTATION; INV,INV
Accession R0075
Systematic name Allele 1 and 2: g.7472C>T, c.1180C>T, r.1180c>u,
Systematic name p.Arg394Trp
Original code P60
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change in the INV 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: RAG1_DNA: 7472
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1292
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 394
Feature /change: R -> W
Feature /domain: INV
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7472
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1292
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 394
Feature /change: R -> W
Feature /domain: INV
Diagnosis Omenn Syndrome
//
ID R396C(1a),R396C(1a); standard; MUTATION;
Accession R0008
Systematic name Allele 1 and 2: g.1298C>T, c.1298C>T, p.R396C
Original code OS6 ref [1]; P16b ref [2]
Description Allele 1 and 2; missense mutation leading to amino acid
Description change in homeodomain, DNA binding
Date 22-Feb-1999 (Rel. 1, Created)
Date 09-Jan-2001 (Rel. 1, Last updated, Version 4)
RefNumber [1]
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 [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; 179615.0006
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: HSRAG1: 1298
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1298
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 396
Feature /change: R -> C
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG1: 1298
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1298
Feature /codon: cgc -> tgc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 396
Feature /change: R -> C
Diagnosis Omenn syndrome
Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia;
Symptoms Lymphoadenopathy; Hepatomegaly; Protracted diarrhea
Age at onset 4 months
Relative RAG1; R0035 sibling
WBC 9.5
Total lymphoc 2.7
Eosin 1.15
IgA 0.10
IgE 1690 kU/I
IgG 2
IgM 0.50
CD3 50
CD4 n.d.
CD45RA n.d.
CD45R0 n.d.
CD8 n.d.
CD16 n.d.
CD19/CD20 16
DR n.d.
PHA 24
MFT -
//
ID R396C(1b),R396C(1b); standard; MUTATION;
Accession R0035
Systematic name Allele 1 and 2: g.1298C>T, c.1298C>T, p.R396C
Original code P16a
Description Allele 1 and 2; missense mutation leading to amino acid
Description change in homeodomain, DNA binding
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: HSRAG1: 1298
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1298
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 396
Feature /change: R -> C
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG1: 1298
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1298
Feature /codon: cgc -> tgc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 396
Feature /change: R -> C
Diagnosis Leaky severe combined immunodeficiency
Age at onset 2 months
Relative RAG1; R0008 sibling
WBC 6.1
Total lymphoc 2.4
Eosin 1.4
IgA <0.07
IgE n.d.
IgG 5.8 maternally-derived
IgM 0.07
CD3 4
CD4 3
CD45RA n.d.
CD45R0 n.d.
CD8 <1
CD16 88
CD19/CD20 <1
DR n.d.
PHA <1
MFT -
Comment Diagnosed at 2 months of age because of an older sibling
Comment who had died with typical Omenn syndrome, was immediately
Comment treated by allogenic BMT when still asymptomatic
//
ID R396C(2a),L885R(1a); standard; MUTATION;
Accession R0038
Systematic name Allele 1: g.1298C>T, c.1298C>T, p.R396C
Systematic name Allele 2: g.2766T>G, c.2766T>G, p.L885R
Original code Case 1
Description Allele 1 and 2; missense mutation in the exon 2
Date 27-Apr-2000 (Rel. 1, Created)
Date 26-Jul-2000 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10606976
RefAuthors Wada, T., Takei, K., Kudo, M., Shimura, S., Kasahara, Y.,
RefAuthors Koizumi, S., Kawa-Ha, K., Ishida, Y., Imashuku, S., Seki,
RefAuthors H., Yachie, A.
RefTitle Characterization of immune function and analysis of RAG
RefTitle gene mutations in Omenn syndrome and related disorders
RefLoc Clin. Exp. Immunol. 119:148-55 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: HSRAG1: 1298
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1298
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 396
Feature /change: R -> C
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG1: 2766
Feature /change: t -> g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 2766
Feature /codon: ctg -> cgg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 885
Feature /change: L -> R
Diagnosis Omenn Syndrome
Symptoms Erythrodermia; Hepatomegaly; Adenopathy
Age at onset 0 day
Sex XY
Ethnic origin Mongoloid; Japan
Relative RAG1; R0039 brother
Total lymphoc 8.91
Eosin 6.24
IgA <.5
IgE >2000 U/ml
IgG 38
IgM <.5
CD3 69
CD4 35
CD8 41
CD16 20
PHA 3914
//
ID R396C(2b),L885R(1b); standard; MUTATION;
Accession R0039
Systematic name Allele 1: g.1298C>T, c.1298C>T, p.R396C
Systematic name Allele 2: g.2766T>G, c.2766T>G, p.L885R
Original code Case 2
Description Allele 1 and 2; missense mutation in the exon 2
Date 27-Apr-2000 (Rel. 1, Created)
Date 26-Jul-2000 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10606976
RefAuthors Wada, T., Takei, K., Kudo, M., Shimura, S., Kasahara, Y.,
RefAuthors Koizumi, S., Kawa-Ha, K., Ishida, Y., Imashuku, S., Seki,
RefAuthors H., Yachie, A.
RefTitle Characterization of immune function and analysis of RAG
RefTitle gene mutations in Omenn syndrome and related disorders
RefLoc Clin. Exp. Immunol. 119:148-55 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: HSRAG1: 1298
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1298
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 396
Feature /change: R -> C
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG1: 2766
Feature /change: t -> g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 2766
Feature /codon: ctg -> cgg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 885
Feature /change: L -> R
Diagnosis Omenn Syndrome
Symptoms Erythrodermia; Hepatomegaly; Adenopathy
Age at onset 0 day
Sex XY
Ethnic origin Mongoloid; Japan
Relative RAG1; R0038 brother
Total lymphoc 2.98
Eosin 3.73
IgA <.7
IgE >2000 U/ml
IgG 91.1
IgM <.7
CD3 65
CD4 62
CD8 9
CD16 15
PHA 10240
//
ID R396C(3),Y912C(1); standard; MUTATION;
Accession R0005
Systematic name Allele 1: g.1298C>T, c.1298C>T, p.R396C
Systematic name Allele 2: g.2847A>G, c.2847A>G, p.Y912C
Original code C.A. ref [1]; OS3 ref [2]; P33 ref [3]
Description Allele 1; missense mutation in the exon 2 leading to amino
Description acid change in homeodomain, DNA binding
Description Allele 2; missense mutation in the exon 2 leading to amino
Description acid change in active core domain
Date 22-Feb-1999 (Rel. 1, Created)
Date 09-Jan-2001 (Rel. 1, Last updated, Version 4)
RefNumber [1]
RefCrossRef PUBMED; 9394797
RefAuthors Brugnoni, D., Airo, P., Facchetti, F., Blanzuoli, L.,
RefAuthors Ugazio, A.G., Cattaneo, R., Notarangelo, L.D.
RefTitle In vitro cell death of activated lymphocytes in Omenn's
RefTitle syndrome
RefLoc Eur. J. Immunol. 27:2765-2773 (1997)
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; 179615.0006
DB CrossRef OMIM; 179615.0007
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: HSRAG1: 1298
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1298
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 396
Feature /change: R -> C
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG1: 2847
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 2847
Feature /codon: tac -> tgc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 912
Feature /change: Y -> C
Diagnosis Omenn syndrome
Symptoms Erythrodermia; Skin rash; Lymphoadenopathy;
Symptoms Hepatomegaly; Splenomegaly; Protracted diarrhea
Age at onset 3 months
WBC 45.1
Total lymphoc 26.29
Eosin 2.25
IgA 0.54
IgE >3000 kU/I
IgG 7.76
IgM 0.74
CD3 83
CD4 43
CD45RA 3
CD45R0 97
CD8 29
CD16 7
CD19/CD20 <1
DR 72
PHA 1.6
MFT -
//
ID R396C(4a),L885R(2a); standard; MUTATION; INV,
Accession R0090
Systematic name Allele 1: g.7478C>T, c.1186C>T, r.1186c>u, p.Arg396Cys
Systematic name Allele 2: g.8946T>G, c.2654T>G, r.2654u>g, p.Leu885Arg
Original code Case1
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change in the INV domain
Description Allele 2: A point mutation in the exon 2 leading to an
Description amino acid change
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17075247
RefAuthors Kato, M., Kimura, H., Seki, M., Shimada, A., Hayashi, Y.,
RefAuthors Morio, T., Kumaki, S., Ishida, Y., Kamachi, Y., Yachie, A.
RefTitle Omenn syndrome--review of several phenotypes of omenn
RefTitle syndrome and RAG1/RAG2 mutations in japan.
RefLoc Allergol Int:115-119 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7478
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1298
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 396
Feature /change: R -> C
Feature /domain: INV
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8946
Feature /change: t -> g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2766
Feature /codon: ctg -> cgg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 885
Feature /change: L -> R
Diagnosis Omenn syndrome
Symptoms Hepatosplenomegaly; Lymphnode swelling; Eczema;
Symptoms Eosinophilia; IgE elevation;
Age 2 mo
Ethnic origin Japan
Relative RAG1base; R0091 sibling
//
ID R396C(4b),L885R(2b); standard; MUTATION; INV,
Accession R0091
Systematic name Allele 1: g.7478C>T, c.1186C>T, r.1186c>u, p.Arg396Cys
Systematic name Allele 2: g.8946T>G, c.2654T>G, r.2654u>g, p.Leu885Arg
Original code Case2
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change in the INV domain
Description Allele 2: A point mutation in the exon 2 leading to an
Description amino acid change
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17075247
RefAuthors Kato, M., Kimura, H., Seki, M., Shimada, A., Hayashi, Y.,
RefAuthors Morio, T., Kumaki, S., Ishida, Y., Kamachi, Y., Yachie, A.
RefTitle Omenn syndrome--review of several phenotypes of omenn
RefTitle syndrome and RAG1/RAG2 mutations in japan.
RefLoc Allergol Int:115-119 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7478
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1298
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 396
Feature /change: R -> C
Feature /domain: INV
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8946
Feature /change: t -> g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2766
Feature /codon: ctg -> cgg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 885
Feature /change: L -> R
Diagnosis Omenn syndrome
Symptoms Hepatosplenomegaly; Lymphnode swelling; Eczema;
Symptoms Eosinophilia; IgE elevation;
Age 0
Ethnic origin Japan
Relative RAG1base; R0090 sibling
//
ID R396H(1),#I537X566(1); standard; MUTATION;
Accession R0006
Systematic name Allele 1: g.1299G>A, c.1299G>A, p.R396H
Systematic name Allele 2: g.1723_1735delTATTGATGGGCTG,
Systematic name c.1723_1735delTATTGATGGGCTG, p.I537fsX566
Original code C.N. ref [1]; OS4 ref [2]; P31 ref [3]
Description Allele 1; missense mutation leading to amino acid change in
Description homeodomain, DNA binding
Description Allele 2; frameshift deletion leading to truncated protein
Date 22-Feb-1999 (Rel. 1, Created)
Date 09-Jan-2001 (Rel. 1, Last updated, Version 4)
RefNumber [1]
RefCrossRef PUBMED; 9394797
RefAuthors Brugnoni, D., Airo, P., Facchetti, F., Blanzuoli, L.,
RefAuthors Ugazio, A.G., Cattaneo, R., Notarangelo, L.D.
RefTitle In vitro cell death of activated lymphocytes in Omenn's
RefTitle syndrome
RefLoc Eur. J. Immunol. 27:2765-2773 (1997)
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; 179615.0008
DB CrossRef OMIM; 179615.0012
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: HSRAG1: 1299
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1299
Feature /codon: cgc -> cac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 396
Feature /change: R -> H
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: HSRAG1: 1723..1735
Feature /change: -tattgatggg ctg
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1723..1735
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 537..541
Feature /change: IIDGL -> ILDYHPLWMI TQWTPLQRGS AMIQLWCLLX
Diagnosis Omenn syndrome
Symptoms Failure to thrive; Erythrodermia; Skin rash;
Symptoms Lymphoadenopathy; Hepatomegaly;
Age at onset 1 month
WBC 23.5
Total lymphoc 12.0
Eosin 6.01
IgA <0.06
IgE 1 kU/I
IgG <0.37
IgM 0.12
CD3 92
CD4 24
CD45RA 8.3
CD45R0 91.7
CD8 68
CD16 7
CD19/CD20 <1
DR 70
PHA 21.3
MFT -
//
ID R396H(2),R396H(2); standard; MUTATION; INV,INV
Accession R0081
Systematic name Allele 1 and 2: g.7479G>A, c.1187G>A, r.1187g>a,
Systematic name p.Arg396His
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change in the INV domain
Date 16-Jun-2010 (Rel. 1, Created)
Date 16-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19830075
RefAuthors Al Balwi, M., Al Ajaji, S., Al Abdulkareem, I., Hajeer, A.
RefTitle Homozygous R396H mutation of the RAG1 gene in a saudi
RefTitle infant with omenn's syndrome: a case report.
RefLoc Cases J:8391 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7479
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1299
Feature /codon: cgc -> cac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 396
Feature /change: R -> H
Feature /domain: INV
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7479
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1299
Feature /codon: cgc -> cac; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 396
Feature /change: R -> H
Feature /domain: INV
Diagnosis Omenn Syndrome
Symptoms Infections:
Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia;
Symptoms Protracted diarrhea;
Age 0.2
Sex XX
Ethnic origin Saudi Arab
CD4 21
CD8 33
//
ID R396L(1),R975Q(1); standard; MUTATION;
Accession R0034
Systematic name Allele 1: g.1299G>T, c.1299G>T, p.R396L
Systematic name Allele 2: g.3036G>A, c.3036G>A, p.R975Q
Original code P36
Description Allele 1 and 2; missense mutation in the exon 2
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: HSRAG1: 1299
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1299
Feature /codon: cgc -> ctc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 396
Feature /change: R -> L
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG1: 3036
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 3036
Feature /codon: cgg -> cag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 975
Feature /change: R -> Q
Diagnosis Omenn syndrome
Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia;
Symptoms Lymphoadenopathy; Hepatomegaly; Splenomegaly;
Symptoms Protracted diarrhea
Age at onset 4 month
WBC 9.5
Total lymphoc 2.7
Eosin 1.15
IgA 0.10
IgE 1690 kU/I
IgG 2
IgM 0.50
CD3 50
CD4 n.d.
CD45RA n.d.
CD45R0 n.d.
CD8 n.d.
CD16 n.d.
CD19/CD20 16
DR n.d.
PHA 24
MFT -
//
ID S401P(1),S401P(1); standard; MUTATION;
Accession R0020
Systematic name Allele 1 and 2: g.1313T>C, c.1313T>C, p.S401P
Original code P27
Description Allele 1 and 2; missense mutation in the exon 2
Date 01-Mar-1999 (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: deletion
Feature /loc: EMBL: HSRAG1: 1313
Feature /change: t -> c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1313
Feature /codon: tcg -> ccg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 401
Feature /change: S -> P
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: HSRAG1: 1313
Feature /change: t -> c
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1313
Feature /codon: tcg -> ccg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 401
Feature /change: S -> P
Diagnosis Omenn syndrome
Symptoms Skin rash; Pneumonia; Lymphoadenopathy; Hepatomegaly
Age at onset 1.5 month
WBC 4.5
Total lymphoc 2.79
Eosin 1.35
IgA n.d.
IgE 166 kU/I
IgG 4.97
IgM n.d.
CD3 88
CD4 83
CD45RA <1
CD45R0 99
CD8 5
CD16 6
CD19/CD20 <1
DR 55
PHA 15
MFT n.d.
//
ID R404Q(1a),R404Q(1a); standard; MUTATION; DNAB,DNAB
Accession R0053
Systematic name Allele 1 and 2: g.7503G>A, c.1211G>A, r.1211g>a,
Systematic name p.Arg404Gln
Original code RAG-SCID 7.1
Description Allele 1 and 2: a point mutation in the exon 2 leading to
Description an amino acid change in the DNAB 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: RAG1_DNA: 7503
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1323
Feature /codon: cgg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 404
Feature /change: R -> Q
Feature /domain: DNAB
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7503
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1323
Feature /codon: cgg -> cag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 404
Feature /change: R -> Q
Feature /domain: DNAB
Diagnosis T and B cell-negative severe combined immunodeficiency
Sex XX
Family history Inherited
Relative RAG1base; R0054 sister
//
ID R404Q(1b),R404Q(1b); standard; MUTATION; DNAB,DNAB
Accession R0054
Systematic name Allele 1 and 2: g.7503G>A, c.1211G>A, r.1211g>a,
Systematic name p.Arg404Gln
Original code RAG-SCID 7.1
Description Allele 1 and 2: a point mutation in the exon 2 leading to
Description an amino acid change in the DNAB 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: RAG1_DNA: 7503
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1323
Feature /codon: cgg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 404
Feature /change: R -> Q
Feature /domain: DNAB
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7503
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1323
Feature /codon: cgg -> cag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 404
Feature /change: R -> Q
Feature /domain: DNAB
Diagnosis T and B cell-negative severe combined immunodeficiency
Sex XX
Family history Inherited
Relative RAG1base; R0053 sister
//
ID R405G(1),R624H(3); standard; MUTATION; INV,
Accession R0100
Systematic name Allele 1: g.7505A>G, c.1213A>G, r.1213a>g, p.Arg405Gly
Systematic name Allele 2: g.8163G>A, c.1871G>A, r.1871g>a, p.Arg624His
Original code PID31
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change in the INV domain
Description Allele 2: A point mutation in the exon 2 leading to an
Description amino acid change
Date 28-Feb-2019 (Rel. 1, Created)
Date 28-Feb-2019 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (28-Feb-2019) to RAG1base.
RefLoc GIGLIOLA DI MATTEO; Via Montpellier, 1; Tel +390672596492;
RefLoc e-mail di.matteo@med.uniroma2.it
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7505
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1325
Feature /codon: aga -> gga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 405
Feature /change: R -> G
Feature /domain: INV
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8163
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1983
Feature /codon: cgt -> cat; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 624
Feature /change: R -> H
Diagnosis Leaky severe combined immunodeficiency
Age 3
Sex XX
Ethnic origin Caucasoid; Italia
Family history Inherited
//
ID R561C(3),R404Q(3); standard; MUTATION; ,INV
Accession R0076
Systematic name Allele 1: g.7973C>T, c.1681C>T, r.1681c>u, p.Arg561Cys
Systematic name Allele 2: g.7503G>A, c.1211G>A, r.1211g>a, p.Arg404Gln
Original code P61
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the exon 2 leading to an
Description amino acid change
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: RAG1_DNA: 7973
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1793
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 561
Feature /change: R -> C
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7503
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1323
Feature /codon: cgg -> cag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 404
Feature /change: R -> Q
Feature /domain: INV
Diagnosis Omenn Syndrome
//
ID R404W(1),#S875X882(1); standard; MUTATION; DNAB,
Accession R0045
Systematic name Allele 1: g.7502C>T, c.1210C>T, r.1210c>u, p.Arg404Trp
Systematic name Allele 2: g.8915delT, c.2623delT, r.2623delu, p.Ser875fsX8
Original code OM4
Description Allele 1: a point mutation in the exon 2 leading to an
Description amino acid change in the DNAB domain
Description Allele 2: a frame shift deletion in the exon 2 leading to a
Description premature stop codon
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)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7502
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1322
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 404
Feature /change: R -> W
Feature /domain: DNAB
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: RAG1_DNA: 8915
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2735
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 875
Feature /change: S -> PRRGTRLX
Diagnosis Omenn Syndrome
Symptoms Infections:
Symptoms Failure to thrive; Erythrodermia; Protracted diarrhea;
Symptoms Others:
Symptoms eosinophilia
Age at onset 2 months
Sex XY
Family history Inherited
Total lymphoc 3000
Eosinophils 3200
IgE 64
CD19 0
//
ID R410Q(1),R841W(1); standard; MUTATION;
Accession R0014
Systematic name Allele 1: g.1341G>A, c.1341G>A, p.R410Q
Systematic name Allele 2: g.2633C>T, c.2633C>T, p.R841W
Original code P22
Description Allele 1 and 2; missense mutation in the exon 2
Date 26-Feb-1999 (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: HSRAG1: 1341
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1341
Feature /codon: cgg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 410
Feature /change: R -> Q
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG1: 2633
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 2633
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 841
Feature /change: R -> W
Diagnosis leaky severe combined immunodeficiency
Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia;
Symptoms Protracted diarrhea
Age at onset 1 month
WBC 3.6
Total lymphoc 1.01
Eosin 1.2
IgA 0.17
IgE >1000 kU/I
IgG 6.54
IgM 0.47
CD3 20
CD4 17
CD45RA 2
CD45R0 98
CD8 16
CD16 33
CD19/CD20 15
DR 24
PHA 6.8
MFT -
//
ID V433M(1),A444V(3); standard; MUTATION;
Accession R0031
Systematic name Allele 1: g.1409G>A, c.1409G>A, p.V433M
Systematic name Allele 2: g.1443C>T, c.1443C>T, p.A444V
Original code P18
Description Allele 1 and 2; missense mutation in the exon 2
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: HSRAG1: 1409
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1409
Feature /codon: gtg -> atg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 433
Feature /change: V -> M
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG1: 1443
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1443
Feature /codon: gcg -> gtg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 444
Feature /change: A -> V
Diagnosis Leaky severe combined immunodeficiency
Symptoms Pneumonia; Hepatomegaly; Protracted diarrhea
Age at onset 2 months
WBC 1.0
Total lymphoc 0.19
Eosin 0.14
IgA 0.05
IgE n.d.
IgG 3.78
IgM 0.32
CD3 27
CD4 20
CD45RA 5
CD45R0 95
CD8 7
CD16 56
CD19/CD20 4
DR 31
PHA 2
MFT n.d.
//
ID M435V(1),R559S(1); standard; MUTATION;
Accession R0037
Systematic name Allele 1: g.1415A>G, c.1415A>G, p.M435V
Systematic name Allele 2: g.1789G>T, c.1789G>T, p.R559S
Original code P40
Description Allele 1 and 2; missense mutation in the exon 2
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: HSRAG1: 1415
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1415
Feature /codon: atg -> gtg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 435
Feature /change: M -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG1: 1789
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1789
Feature /codon: agg -> agt; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 559
Feature /change: R -> S
Diagnosis Omenn syndrome
Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia;
Symptoms Lymphoadenopathy; Hepatomegaly; Splenomegaly;
Symptoms Protracted diarrhea
Age at onset 1 month
WBC 8.3
Total lymphoc 5.81
Eosin 0.59
IgA 0.22
IgE n.d.
IgG 1.86
IgM 0.20
CD3 94
CD4 79
CD45RA <1
CD45R0 99
CD8 13
CD16 6
CD19/CD20 <1
DR 83
PHA <1
MFT -
//
ID A444V(1),A444V(1); standard; MUTATION;
Accession R0013
Systematic name Allele 1 and 2: g.1443C>T, c.1443C>T, p.A444V
Original code P41
Description Allele 1 and 2; missense mutation in the exon 2
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: deletion
Feature /loc: EMBL: HSRAG1: 1443
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1443
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 444
Feature /change: A -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: HSRAG1: 1443
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1443
Feature /codon: gcg -> gtg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 444
Feature /change: A -> V
Diagnosis Omenn syndrome
Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia;
Symptoms Lymphoadenopathy; Hepatomegaly; Splenomegaly;
Symptoms Protracted diarrhea
Age at onset 3 months
WBC 2.9
Total lymphoc 1.0
Eosin 1.7
IgA <0.07
IgE n.d.
IgG 0.62
IgM 0.13
CD3 31
CD4 13
CD45RA n.d.
CD45R0 n.d.
CD8 11
CD16 68
CD19/CD20 <1
DR n.d.
PHA <1
MFT -
//
ID A444V(2),A444V(2); standard; MUTATION;
Accession R0032
Systematic name Allele 1 and 2: g.1443C>T, c.1443C>T, p.A444V
Original code P23
Description Allele 1 and 2; missense mutation in the exon 2
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: HSRAG1: 1443
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1443
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 444
Feature /change: A -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG1: 1443
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1443
Feature /codon: gcg -> gtg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 444
Feature /change: A -> V
Diagnosis Leaky severe combined immunodeficiency
Symptoms Erythrodermia; Skin rash; Pneumonia;
Age at onset 1 month
WBC 21.0
Total lymphoc 9.45
Eosin 1.68
IgA <0.08
IgE 45 kU/I
IgG 0.15
IgM <0.07
CD3 87
CD4 53
CD45RA n.d.
CD45R0 n.d.
CD8 36
CD16 13
CD19/CD20 1
DR 75
PHA 41
MFT -
//
ID R449K(1),R449K(1); standard; MUTATION;
Accession R0078
Systematic name Allele 1 and 2: g.7638G>A, c.1346G>A, r.1346g>a,
Systematic name p.Arg449Lys
Original code P63
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
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: RAG1_DNA: 7638
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1458
Feature /codon: agg -> aag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 449
Feature /change: R -> K
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7638
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1458
Feature /codon: agg -> aag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 449
Feature /change: R -> K
Diagnosis Omenn Syndrome
Symptoms Others:
Symptoms Recurrent URTI
Age 0.1
WBC 19.2
IgA <0.1
IgG 1
IgM 0.1
CD4+CD45RA+ 4
CD4+CD45R0+ 96
//
ID #C470X509(1),#C470X509(1); standard; MUTATION;
Accession R0028
Systematic name Allele 1 and 2: g.1521_1522delGC, c.1521_1522delGC,
Systematic name p.C470fsX509
Original code P8
Description Allele 1 and 2; frameshift deletion in the exon 2 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: deletion
Feature /loc: EMBL: HSRAG1: 1521..1522
Feature /change: -gc
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1521..1522
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 470
Feature /change: C
Feature /change: -> FGHPCQHLPQ LQSVPQDVQD CESHHRETDF SAFACPSECX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: HSRAG1: 1521..1522
Feature /change: -gc
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1521..1522
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 470
Feature /change: C
Feature /change: -> FGHPCQHLPQ LQSVPQDVQD CESHHRETDF SAFACPSECX
Diagnosis T and B cell-negative severe combined immunodeficiency
Symptoms Failure to thrive; Skin rash; Pneumonia; Protracted
Symptoms diarrhea
Age at onset 4 months
WBC 8.6
Total lymphoc 0.43
Eosin <0.05
IgA <0.08
IgE n.d.
IgG 1.05
IgM <0.07
CD3 1
CD4 <1
CD45RA n.d.
CD45R0 n.d.
CD8 1
CD16 91
CD19/CD20 <1
DR n.d.
PHA 15
MFT -
//
ID R474H(1),H753L(1); standard; MUTATION;
Accession R0030
Systematic name Allele 1: g.1533G>A, c.1533G>A, p.R474H
Systematic name Allele 2: g.2370A>T, c.2370A>T, p.H753L
Original code P17
Description Allele 1 and 2; missense mutation in the exon 2
Date 28-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: HSRAG1: 1533
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1533
Feature /codon: cgt -> cat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 474
Feature /change: R -> H
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG1: 2370
Feature /change: a -> t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 2370
Feature /codon: cat -> ctt; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 753
Feature /change: H -> L
Diagnosis Leaky severe combined immunodeficiency
Symptoms Failure to thrive; Protracted diarrhea
Age at onset 3.5 months
WBC 3.2
Total lymphoc 0.34
Eosin 0.03
IgA 0.25
IgE n.d.
IgG n.d.
IgM 0.25
CD3 27
CD4 25
CD45RA n.d.
CD45R0 n.d.
CD8 2
CD16 50
CD19/CD20 11
DR n.d.
PHA 49
MFT -
//
ID R474H(2),C730F(1); standard; MUTATION;
Accession R0047
Systematic name Allele 1: g.7713G>A, c.1421G>A, r.1421g>a, p.Arg474His
Systematic name Allele 2: g.8481G>T, c.2189G>T, r.2189g>u, p.Cys730Phe
Original code OM6
Description Allele 1: a point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: a point mutation in the exon 2 leading to an
Description amino acid change
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)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7713
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1533
Feature /codon: cgt -> cat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 474
Feature /change: R -> H
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8481
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2301
Feature /codon: tgt -> ttt; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 730
Feature /change: C -> F
Diagnosis Omenn Syndrome
Symptoms Infections:
Symptoms Failure to thrive; Erythrodermia; Protracted diarrhea;
Symptoms Others:
Symptoms eosinophilia
Age 3 month
Sex XX
Family history Inherited
Total lymphoc 6000
Eosinophils 6700
IgE 20000
//
ID R474H(3),R624C(2); standard; MUTATION;
Accession R0087
Systematic name Allele 1: g.7713G>A, c.1421G>A, r.1421g>a, p.Arg474His
Systematic name Allele 2: g.8162C>T, c.1870C>T, r.1870c>u, p.Arg624Cys
Original code P.1
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the exon 2 leading to an
Description amino acid change
Date 28-Jul-2010 (Rel. 1, Created)
Date 28-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18822103
RefAuthors Gruber, T. A., Shah, A. J., Hernandez, M., Crooks, G. M.,
RefAuthors Abdel-Azim, H., Gupta, S., McKnight, S., White, D.,
RefAuthors Kapoor, N., Kohn, D. B.
RefTitle Clinical and genetic heterogeneity in omenn syndrome and
RefTitle severe combined immune deficiency.
RefLoc Pediatr Transplant:244-250 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7713
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1533
Feature /codon: cgt -> cat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 474
Feature /change: R -> H
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8162
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1982
Feature /codon: cgt -> tgt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 624
Feature /change: R -> C
Diagnosis T and B cell-negative severe combined immunodeficiency
Symptoms Pneumonia; Diarrhea; Neutropenia;
Age 4 mo
Sex XX
IgA 30 mg/dl
IgE <2 mg/dl
IgG 177 mg/dl
IgM 33 mg/dl
//
ID R474S(1),A622P(1); standard; MUTATION;
Accession R0071
Systematic name Allele 1: g.7712C>A, c.1420C>A, r.1420c>a, p.Arg474Ser
Systematic name Allele 2: g.8156G>C, c.1864G>C, r.1864g>c, p.Ala622Pro
Original code P55
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the exon 2 leading to an
Description amino acid change
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: RAG1_DNA: 7712
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1532
Feature /codon: cgt -> agt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 474
Feature /change: R -> S
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8156
Feature /change: g -> c
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1976
Feature /codon: gca -> cca; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 622
Feature /change: A -> P
Diagnosis T and B cell-negative severe combined immunodeficiency
Symptoms Infections:
Symptoms Failure to thrive; Hepatomegaly;
Age 0.2
WBC 5.6
IgG 1.42
IgM 0.01
CD3 0.5
CD4 0.7
//
ID R507W(1),R561C(2); standard; MUTATION;
Accession R0024
Systematic name Allele 1: g.1631C>T, c.1631C>T, p.R507W
Systematic name Allele 2: g.1793C>T, c.1793C>T, p.R561C
Original code P19
Description Allele 1 and 2; missense mutation in the exon 2
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: HSRAG1: 1631
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1631
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 507
Feature /change: R -> W
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG1: 1793
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1793
Feature /codon: cgc -> tgc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 561
Feature /change: R -> C
Diagnosis Leaky severe combined immunodeficiency
Symptoms Skin rash
Age at onset 3 months
WBC 7.5
Total lymphoc 3.15
Eosin 0.6
IgA <0.03
IgE n.d.
IgG 8.58
IgM 0.07
CD3 4
CD4 5
CD45RA n.d.
CD45R0 n.d.
CD8 56
CD16 83
CD19/CD20 3
DR 18
PHA 1
MFT n.d.
//
ID W522C(1),E722K(3); standard; MUTATION;
Accession R0018
Systematic name Allele 1: g.1678G>T, c.1678G>T, p.W522C
Systematic name Allele 2: g.2276G>A, c.2276G>A, p.E722K
Original code P3 ref [1]; P25 ref [2]
Description Allele 1 and 2; missense mutation in the exon 2
Date 01-Mar-1999 (Rel. 1, Created)
Date 09-Jan-2001 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 10701853
RefAuthors Villa, A., Bozzi, F., Sobacchi, C., Strina, D., Fasth,
RefAuthors A., Pasic, S., Notarangelo, L. D., Vezzoni, P.
RefTitle Prenatal diagnosis of RAG-deficient Omenn syndrome
RefLoc Prenat. Diagn. 20:56-59 (2000)
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: HSRAG1: 1678
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1678
Feature /codon: tgg -> tgt; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 522
Feature /change: W -> C
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG1: 2276
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 2276
Feature /codon: gag -> aag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 722
Feature /change: E -> K
Diagnosis Leaky severe combined immunodeficiency
Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia;
Symptoms Hepatomegaly; Protracted diarrhea
Age at onset 1.5 month
WBC 8.0
Total lymphoc 1.12
Eosin 3.84
IgA 0.16
IgE 5 kU/I
IgG 1.20
IgM 0.17
CD3 39
CD4 34
CD45RA n.d.
CD45R0 n.d.
CD8 16
CD16 39
CD19/CD20 <1
DR 22
PHA 12
MFT n.d.
//
ID W522C(3),R973C(1); standard; MUTATION; ,BV
Accession R0094
Systematic name Allele 1: g.7858G>T, c.1566G>T, r.1566g>u, p.Trp522Cys
Systematic name Allele 2: g.9209C>T, c.2917C>T, r.2917c>u, p.Arg973Cys
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the exon 2 leading to an
Description amino acid change in the BV domain
Date 21-Aug-2013 (Rel. 1, Created)
Date 21-Aug-2013 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (21-Aug-2013) to RAG1base.
RefLoc MONICA MARTINEZ GALLO; Pg. Vall d'Hebron 119-129. 08035
RefLoc -Barcelona- SPAIN ; Tel +34 93 2746100 ext 6983; e-mail
RefLoc monica.mgallo@gmail.com
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7858
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1678
Feature /codon: tgg -> tgt; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 522
Feature /change: W -> C
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 9209
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 3029
Feature /codon: cgc -> tgc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 973
Feature /change: R -> C
Feature /domain: BV
Diagnosis Omenn Syndrome
Symptoms Others:
Symptoms Haemolytic anemia
Age 1
Sex XY
Ethnic origin Caucasoid; Spain
Family history De novo
Relative Heterozygous father and brother c.1566G>T. Mother without
Relative variations.
WBC 7100
Total lymphoc 1280
Eosinophils 100
IgA 54
IgE 148
IgG 1055
IgM 236
CD3 35
CD4 22
CD4+CD45RA+ 10
CD4+CD45R0+ 90
CD8 13
CD16 23
CD19 41
DR 65
//
ID R559S(2),R897X(2); standard; MUTATION;
Accession R0052
Systematic name Allele 1: g.7969G>T, c.1677G>T, r.1677g>u, p.Arg559Ser
Systematic name Allele 2: g.8981C>T, c.2689C>T, r.2689c>u, p.Arg897X
Description Allele 1: a point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: a point mutation in the exon 2 leading to a
Description premature stop codon
Date 24-Feb-2005 (Rel. 1, Created)
Date 24-Feb-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9885222
RefAuthors Kumaki, S., Ishii, N., Minegishi, M., Tsuchiya, S.,
RefAuthors Cosman, D., Sugamura, K., Konno, T.
RefTitle Functional role of interleukin-4 (IL-4) and IL-7 in the
RefTitle development of X-linked severe combined immunodeficiency.
RefLoc Blood 93:607-612 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7969
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1789
Feature /codon: agg -> agt; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 559
Feature /change: R -> S
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8981
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2801
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 897
Feature /change: R -> X
Diagnosis T and B cell-negative severe combined immunodeficiency
Symptoms Others:
Symptoms recurrent infections, thrombocytopenia, transient neutropenia
Age 4 months
Sex XX
Family history Inherited
Eosinophils 9308
IgE 611
IgM 347
//
ID R559S(3),R897X(3); standard; MUTATION;
Accession R0092
Systematic name Allele 1: g.7969G>T, c.1677G>T, r.1677g>u, p.Arg559Ser
Systematic name Allele 2: g.8981C>T, c.2689C>T, r.2689c>u, p.Arg897X
Original code Case3
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the exon 2 leading to a
Description premature stop codon
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17075247
RefAuthors Kato, M., Kimura, H., Seki, M., Shimada, A., Hayashi, Y.,
RefAuthors Morio, T., Kumaki, S., Ishida, Y., Kamachi, Y., Yachie, A.
RefTitle Omenn syndrome--review of several phenotypes of omenn
RefTitle syndrome and RAG1/RAG2 mutations in japan.
RefLoc Allergol Int:115-119 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7969
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1789
Feature /codon: agg -> agt; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 559
Feature /change: R -> S
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8981
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2801
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 897
Feature /change: R -> X
Diagnosis Omenn syndrome
Symptoms Lymphnode swelling; Eczema; Eosinophilia; IgE elevation;
Age 4 mo
Ethnic origin Japan
//
ID R561H(1),R561H(1); standard; MUTATION;
Accession R0004
Systematic name Allele 1 and 2: g.1794G>A, c.1794G>A, p.R561H
Original code R.C. ref [1]; OS2 ref [2]; P35 ref [3]
Description Allele 1 and 2; missense mutation in the exon 3 leading to
Description amino acid change in RAG-2 interaction domain
Date 22-Feb-1999 (Rel. 1, Created)
Date 09-Jan-2001 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 9394797
RefAuthors Brugnoni, D., Airo, P., Facchetti, F., Blanzuoli, L.,
RefAuthors Ugazio, A.G., Cattaneo, R., Notarangelo, L.D.
RefTitle In vitro cell death of activated lymphocytes in Omenn's
RefTitle syndrome
RefLoc Eur. J. Immunol. 27:2765-2773 (1997)
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; 179615.0005
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: HSRAG1: 1794
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1794
Feature /codon: cgc -> cac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 561
Feature /change: R -> H
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG1: 1794
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1794
Feature /codon: cgc -> cac; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 561
Feature /change: R -> H
Diagnosis Omenn syndrome
Symptoms Failure to thrive; Erythrodermia; Skin rash;
Symptoms Lymphoadenopathy; Hepatomegaly; Splenomegaly;
Symptoms Protracted diarrhea
Age at onset 1 month
WBC 12.0
Total lymphoc 0.72
Eosin 4.54
IgA <0.06
IgE 190 kU/I
IgG 2.28
IgM 0.09
CD3 34
CD4 32
CD45RA 4
CD45R0 97
CD8 24
CD16 43
CD19/CD20 2
DR 27
PHA 5.7
MFT -
//
ID R561C(1),R737H(1); standard; MUTATION;
Accession R0009
Systematic name Allele 1: g.1793C>T, c.1793C>T, p.R561C
Systematic name Allele 2: g.2322G>A, c.2322G>A, p.R737H
Original code OS7 ref [1]; P37 ref [2]
Description Allele 1; missense mutation in the exon 2 leading to amino
Description acid change in RAG-2 interaction domain
Description Allele 2; missense mutation in the exon 2 leading to amino
Description acid change in active core domain
Date 22-Feb-1999 (Rel. 1, Created)
Date 09-Jan-2001 (Rel. 1, Last updated, Version 4)
RefNumber [1]
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 [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; 179615.0010
DB CrossRef OMIM; 179615.0011
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: HSRAG1: 1793
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1793
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 561
Feature /change: R -> C
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG1: 2322
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 2322
Feature /codon: cgt -> cat; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 737
Feature /change: R -> H
Diagnosis Omenn syndrome
Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia;
Symptoms Lymphoadenopathy; Hepatomegaly; Splenomegaly;
Symptoms Protracted diarrhea
Age at onset 1 month
WBC 26.4
Total lymphoc 9.5
Eosin 5.2
IgA 0.62
IgE 45000 kU/I
IgG 7.55 maternally-derived
IgM 0.33
CD3 54
CD4 48
CD45RA n.d.
CD45R0 n.d.
CD8 17
CD16 n.d.
CD19/CD20 2
DR 74
PHA 2.5
MFT -
//
ID R561H(2),R561H(2); standard; MUTATION;
Accession R0050
Systematic name Allele 1 and 2: g.7974G>A, c.1682G>A, r.1682g>a,
Systematic name p.Arg561His
Original code P27
Description Allele 1 and 2: a point mutation in the exon 2 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; 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)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7974
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1794
Feature /codon: cgc -> cac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 561
Feature /change: R -> H
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7974
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1794
Feature /codon: cgc -> cac; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 561
Feature /change: R -> H
Diagnosis T and B cell-negative severe combined immunodeficiency
//
ID R561H(3),R561H(3); standard; MUTATION;
Accession R0058
Systematic name Allele 1 and 2: g.7974G>A, c.1682G>A, r.1682g>a,
Systematic name p.Arg561His
Original code P1
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
Date 26-May-2008 (Rel. 1, Created)
Date 26-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
Reference
RefNumber [1]
RefCrossRef PUBMED; 16211094
RefAuthors Ehl, S., Schwarz, K., Enders, A., Duffner, U., Pannicke,
RefAuthors U., Kuhr, J., Mascart, F., Schmitt-Graeff, A., Niemeyer,
RefAuthors C., Fisch, P.
RefTitle A variant of SCID with specific immune responses and
RefTitle predominance of gamma delta T cells.
RefLoc J Clin Invest:3140-3148 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7974
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1794
Feature /codon: cgc -> cac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 561
Feature /change: R -> H
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7974
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1794
Feature /codon: cgc -> cac; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 561
Feature /change: R -> H
Symptoms Infections:
Symptoms Failure to thrive; Pneumonia;
Symptoms Others:
Symptoms perforated otitis media, bronchopneumonia, oral and genital candida infections, Coombs-positive anemia, neutropenia, lymphopenia, thymus reduced in size
Sex XX
Ethnic origin Turkey
Total lymphoc 0.4-0.83
Eosinophils 0.420
IgA 1.4
IgG 16.7
IgM 2.6
Comment Diagnosis: SCID with specific immune responses
//
ID A565D(1),A565D(1); standard; MUTATION;
Accession R0057
Systematic name Allele 1 and 2: g.7986G>A, c.1694G>A, r.1694g>a,
Systematic name p.Ala565Asp
Original code Patient
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
Date 26-May-2008 (Rel. 1, Created)
Date 26-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
Reference
RefNumber [1]
RefCrossRef PUBMED; 16211094
RefAuthors Ehl, S., Schwarz, K., Enders, A., Duffner, U., Pannicke,
RefAuthors U., Kuhr, J., Mascart, F., Schmitt-Graeff, A., Niemeyer,
RefAuthors C., Fisch, P.
RefTitle A variant of SCID with specific immune responses and
RefTitle predominance of gamma delta T cells.
RefLoc J Clin Invest:3140-3148 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7986
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1806
Feature /codon: gct -> gat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 565
Feature /change: A -> D
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7986
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1806
Feature /codon: gct -> gat; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 565
Feature /change: A -> D
Diagnosis Omenn Syndrome
Symptoms Infections:
Symptoms Failure to thrive; Erythrodermia;
Symptoms Others:
Symptoms upper respiratory infections, otitis media, sepsis due to Pseudomonas aeruginosa, moderate anemia, markedly elevated level of soluble interleukin-2 receptor, absence of peripheral B cells, marked increase of CD4+ and CD8+,lymphocytic infiltration in the upper dermis, occasional eosinophils and destruction of epidermal-dermal junction
Age 0,1
Ethnic origin Japan
Eosinophils 21,8
IgA <0.01
IgE <2
IgG 1.48
IgM 0.02
//
ID Y589X(1),Y589X(1); standard; MUTATION;
Accession R0026
Systematic name Allele 1 and 2: g.1879C>G, c.1879C>G, p.Y589X
Original code P2
Description Allele 1 and 2; nonsense mutation in the exon 2 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: point
Feature /loc: EMBL: HSRAG1: 1879
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1879
Feature /codon: tac -> tag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 589
Feature /change: Y -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG1: 1879
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1879
Feature /codon: tac -> tag; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 589
Feature /change: Y -> X
Diagnosis T and B cell-negative severe combined immunodeficiency
Symptoms Failure to thrive; Pneumonia; Protracted diarrhea
Age at onset 2 months
WBC 2.1
Total lymphoc 0.12
Eosin 0
IgA 0.31
IgE n.d.
IgG 1.69
IgM 0.01
CD3 <1
CD4 <1
CD45RA n.d.
CD45R0 n.d.
CD8 <1
CD16 80
CD19/CD20 <1
DR 17
PHA n.d.
MFT n.d.
//
ID Y589X(2),Y589X(2); standard; MUTATION;
Accession R0069
Systematic name Allele 1 and 2: g.8059C>G, c.1767C>G, r.1767c>g, p.Tyr589X
Original code P52
Description Allele 1 and 2: A point mutation in the exon 2 leading to a
Description premature stop codon
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: RAG1_DNA: 8059
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1879
Feature /codon: tac -> tag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 589
Feature /change: Y -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8059
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1879
Feature /codon: tac -> tag; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 589
Feature /change: Y -> X
Diagnosis T and B cell-negative severe combined immunodeficiency
Symptoms Infections:
Symptoms Failure to thrive; Hepatomegaly;
Age 0.2
IgA <0.07
IgG 1.4
IgM <0.1
CD4 1
CD8 28
//
ID C602W(1),C602W(1); standard; MUTATION;
Accession R0079
Systematic name Allele 1 and 2: g.8098T>G, c.1806T>G, r.1806u>g,
Systematic name p.Cys602Trp
Original code P64
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
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: RAG1_DNA: 8098
Feature /change: t -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1918
Feature /codon: tgt -> tgg; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 602
Feature /change: C -> W
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8098
Feature /change: t -> g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1918
Feature /codon: tgt -> tgg; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 602
Feature /change: C -> W
Diagnosis T and B cell-negative severe combined immunodeficiency
//
ID M605I(1),R561C(4); standard; MUTATION;
Accession R0095
Systematic name Allele 1: g.8107G>C, c.1815G>C, r.1815g>c, p.Met605Ile
Systematic name Allele 2: g.7973C>T, c.1681C>T, r.1681c>u, p.Arg561Cys
Original code PID4
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the exon 2 leading to an
Description amino acid change
Date 28-Feb-2019 (Rel. 1, Created)
Date 28-Feb-2019 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (28-Feb-2019) to RAG1base.
RefLoc GIGLIOLA DI MATTEO; Via Montpellier, 1; Tel +390672596492;
RefLoc e-mail di.matteo@med.uniroma2.it
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8107
Feature /change: g -> c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1927
Feature /codon: atg -> atc; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 605
Feature /change: M -> I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7973
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1793
Feature /codon: cgc -> tgc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 561
Feature /change: R -> C
Diagnosis T and B cell-negative severe combined immunodeficiency
Age 2 months
Sex XY
Ethnic origin Caucasoid; Italia
Family history Inherited
//
ID #K621X630(1),R410Q(2); standard; MUTATION; ,INV
Accession R0097
Systematic name Allele 1: g.8155delG, c.1863delG, r.1863delg, p.Ala622fsX9
Systematic name Allele 2: g.7521G>A, c.1229G>A, r.1229g>a, p.Arg410Gln
Original code PID20
Description Allele 1: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon
Description Allele 2: A point mutation in the exon 2 leading to an
Description amino acid change in the INV domain
Date 28-Feb-2019 (Rel. 1, Created)
Date 28-Feb-2019 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (28-Feb-2019) to RAG1base.
RefLoc GIGLIOLA DI MATTEO; Via Montpellier, 1; Tel +390672596492;
RefLoc e-mail di.matteo@med.uniroma2.it
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: RAG1_DNA: 8155
Feature /change: -g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1975
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 621
Feature /change: K -> KQSVFHSQSX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 7521
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1341
Feature /codon: cgg -> cag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 410
Feature /change: R -> Q
Feature /domain: INV
Diagnosis T and B cell-negative severe combined immunodeficiency
Age 1,8
Sex XX
Ethnic origin Italia
Family history Not known
//
ID R624H(1),R897X(1); standard; MUTATION;
Accession R0003
Systematic name Allele 1: g.1983G>A, c.1983G>A, p.R624H
Systematic name Allele 2: g.2801C>T, c.2801C>T, p.R897X
Original code P4 ref [1]; P12 ref [2]
Description Allele 1; missense mutation in the exon 2
Description Allele 2; nonsense mutation in the exon 2 leading to stop
Description codon and premature termination
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
DB CrossRef SWISS-PROT; P15918:[624_624]
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: HSRAG1: 1983
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 1983
Feature /codon: cgt -> cat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 624
Feature /change: R -> H
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG1: 2801
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 2801
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 897
Feature /change: R -> X
Diagnosis Combined immunodeficiency with maternal fetal transfusion
Symptoms Failure to thrive; Pneumonia; Lymphoadenopathy
Age at onset n.a.
Sex XY
Family history inherited
WBC 6.0
Total lymphoc 2.1
Eosin 0.3
IgA 0.32
IgE n.d.
IgG 6.18 maternally-derived
IgM 0.51
CD3 15
CD4 4
CD45RA n.d.
CD45R0 n.d.
CD8 16
CD16 67
CD19/CD20 <1
DR n.d.
PHA 29
MFT +
//
ID R624H(2),K992E(1); standard; MUTATION;
Accession R0048
Systematic name Allele 1: g.8163G>A, c.1871G>A, r.1871g>a, p.Arg624His
Systematic name Allele 2: g.9266A>G, c.2974A>G, r.2974a>g, p.Lys992Glu
Original code OM7
Description Allele 1: a point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: a point mutation in the exon 2 leading to an
Description amino acid change
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)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8163
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1983
Feature /codon: cgt -> cat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 624
Feature /change: R -> H
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 9266
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 3086
Feature /codon: aaa -> gaa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 992
Feature /change: K -> E
Diagnosis Omenn Syndrome
Symptoms Infections:
Symptoms Failure to thrive; Erythrodermia; Protracted diarrhea;
Symptoms Others:
Symptoms eosinophilia
Age 5 month
Sex XX
Family history Inherited
Total lymphoc 1500
Eosinophils 500
IgE >1000
CD19 0
//
ID #P649X671(1),?; standard; MUTATION;
Accession R0070
Systematic name Allele 1: g.8239delT, c.1947delT, r.1947delu, p.Asn650fsX22
Original code P53
Description Allele 1: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon
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: deletion
Feature /loc: IDRefSeq: RAG1_DNA: 8239
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2059
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 649
Feature /change: P -> PTLNCVASHC ALCWQMSLTT RRX
Diagnosis Leaky severe combined immunodeficiency
Symptoms Others:
Symptoms generalised oedema
Age 0.5
WBC 8.8
IgA 0.99
IgE 3.65
IgG 10.2
IgM <0.17
CD3 6
CD4 5
CD8 2
Comment Leaky T-B-SCID with Guillain-Barre Syndrome
//
ID #H668X671(1),#H668X671(1); standard; MUTATION;
Accession R0056
Systematic name Allele 1 and 2: g.8294delC, c.2002delC, r.2002delc,
Systematic name p.His668fsX4
Original code Patient
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon
Date 26-May-2008 (Rel. 1, Created)
Date 26-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15845893
RefAuthors Wada, T., Toma, T., Okamoto, H., Kasahara, Y., Koizumi,
RefAuthors S., Agematsu, K., Kimura, H., Shimada, A., Hayashi, Y.,
RefAuthors Kato, M., Yachie, A.
RefTitle Oligoclonal expansion of T lymphocytes with multiple
RefTitle second-site mutations leads to omenn syndrome in a patient
RefTitle with RAG1-deficient severe combined immunodeficiency.
RefLoc Blood:2099-2101 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: RAG1_DNA: 8294
Feature /change: -c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2114
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 668
Feature /change: H -> TRRX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: RAG1_DNA: 8294
Feature /change: -c
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2114
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 668
Feature /change: H -> TRRX
Diagnosis Omenn Syndrome
Symptoms Infections:
Symptoms Failure to thrive; Erythrodermia;
Symptoms Others:
Symptoms upper respiratory infections, otitis media, sepsis due to Pseudomonas aeruginosa, moderate anemia, markedly elevated level of soluble interleukin-2 receptor, absence of peripheral B cells, marked increase of CD4+ and CD8+,lymphocytic infiltration in the upper dermis, occasional eosinophils and destruction of epidermal-dermal junction
Age 0,1
Ethnic origin Japan
Eosinophils 21,8
IgA <0.01
IgE <2
IgG 1.48
IgM 0.02
//
ID E669G(1),C900X(1); standard; MUTATION;
Accession R0033
Systematic name Allele 1: g.2118A>G, c.2118A>G, p.E669G
Systematic name Allele 2: g.2812C>A, c.2812C>A, p.C900X
Original code P32
Description Allele 1; missense mutation in the exon 2
Description Allele 2; nonsense mutation in the exon 2 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: point
Feature /loc: EMBL: HSRAG1: 2118
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 2118
Feature /codon: gag -> ggg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 669
Feature /change: E -> G
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG1: 2812
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 2812
Feature /codon: tgc -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 900
Feature /change: C -> X
Diagnosis Omenn syndrome
Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia;
Symptoms Lymphoadenopathy; Hepatomegaly; Splenomegaly; Protracted
Symptoms diarrhea
Age at onset 3 months
WBC 20.5
Total lymphoc 15.17
Eosin 2.46
IgA <1
IgE 817 kU/I
IgG <1.3
IgM 1.5
CD3 93
CD4 11
CD45RA n.d.
CD45R0 n.d.
CD8 85
CD16 11
CD19/CD20 <1
DR n.d.
PHA 110
MFT -
//
ID #L690X708(1),#L690X708(1); standard; MUTATION;
Accession R0017
Systematic name Allele 1 and 2: g.2182_2189delAATGCTTG,
Systematic name c.2182_2189delAATGCTTG, p.L690fsX708
Original code P6
Description Allele 1 and 2; frameshift deletion in the exon 2 leading
Description to frameshift and premature termination
Date 01-Mar-1999 (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: deletion
Feature /loc: EMBL: HSRAG1: 2182..2189
Feature /change: -aatgcttg
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M29474; g131827; HSRAG1: 2182..2189
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 690..693
Feature /change: LMLE -> LAGRHSPDFQ VHLQGHRLX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: HSRAG1: 2182..2189
Feature /change: -aatgcttg
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M29474; g131827; HSRAG1: 2182..2189
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 690..693
Feature /change: LMLE -> LAGRHSPDFQ VHLQGHRLX
Diagnosis T and B cell-negative severe combined immunodeficiency
Symptoms Hepatomegaly; Protracted diarrhea
Age at onset 1 month
WBC 9.0
Total lymphoc 0.04
Eosin <.05
IgA <0.3
IgE n.d.
IgG 3
IgM <0.4
CD3 <1
CD4 <1
CD45RA n.d.
CD45R0 n.d.
CD8 <1
CD16 73
CD19/CD20 1
DR 10
PHA 1
MFT n.d.
//
ID G707R(1),#T173X200(7); standard; MUTATION;
Accession R0104
Systematic name Allele 1: g.8411G>C, c.2119G>C, r.2119g>c, p.Gly707Arg
Systematic name Allele 2: g.6811delT, c.519delT, r.519delu, p.Glu174fsX27
Original code PID39
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon
Date 28-Feb-2019 (Rel. 1, Created)
Date 28-Feb-2019 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (28-Feb-2019) to RAG1base.
RefLoc GIGLIOLA DI MATTEO; Via Montpellier, 1; Tel +390672596492;
RefLoc e-mail di.matteo@med.uniroma2.it
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8411
Feature /change: g -> c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2231
Feature /codon: ggc -> cgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 707
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: RAG1_DNA: 6811
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 631
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: RAG1_HUMAN: 173
Feature /change: T -> TSSAITAGAS CTGSLAVPHV RFTSRGTX
Diagnosis Leaky severe combined immunodeficiency
Age 1,1
Sex XX
Ethnic origin Caucasoid; Italia
Family history Not known
//
ID G709D(1),G709D(1); standard; MUTATION;
Accession R0068
Systematic name Allele 1 and 2: g.8418G>A, c.2126G>A, r.2126g>a,
Systematic name p.Gly709Asp
Original code P51
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
Date 26-May-2008 (Rel. 1, Created)
Date 26-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: RAG1_DNA: 8418
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2238
Feature /codon: ggc -> gac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 709
Feature /change: G -> D
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8418
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2238
Feature /codon: ggc -> gac; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 709
Feature /change: G -> D
Diagnosis Omenn Syndrome
Age 0.25
WBC 13.9
IgA <0.24
IgE 25
IgG <1.4
IgM <0.17
CD3 21.1
CD4 20.5
CD8 21.4
//
ID E722K(1),E774X(1); standard; MUTATION;
Accession R0001
Systematic name Allele 1: g.2276G>A, c.2276G>A, p.E722K
Systematic name Allele 2: g.2432G>T, c.2432G>T, p.E774X
Original code P1 ref [1]; P3 ref [2]
Description Allele 1; missense mutation in the exon 2
Description Allele 2; nonsense mutation in the exon 2 leading to
Description stop codon and premature termination
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; 179615.0001
DB CrossRef OMIM; 179615.0002
DB CrossRef
DB CrossRef SWISS-PROT; P15918:[722_722]
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: HSRAG1: 2276
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 2276
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 722
Feature /change: E -> K
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG1: 2432
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 2432
Feature /codon: gaa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 774
Feature /change: E -> X
Diagnosis T and B cell-negative severe combined immunodeficiency
Symptoms Failure to thrive; Pneumonia
Age at onset 1.5 month
Sex XY
Family history inherited
Parents consanguineous
WBC 3.5
Total lymphoc 0.35
Eosin 0.17
IgA <0.05
IgE n.d.
IgG subst.
IgM 0.15
CD3 2
CD4 <1
CD45RA n.d.
CD45R0 n.d.
CD8 <1
CD16 90
CD19/CD20 <1
DR n.d.
PHA 5
MFT -
//
ID Y728H(1),R624H(4); standard; MUTATION; ZFB,
Accession R0102
Systematic name Allele 1: g.8474T>C, c.2182T>C, r.2182u>c, p.Tyr728His
Systematic name Allele 2: g.8163G>A, c.1871G>A, r.1871g>a, p.Arg624His
Original code PID51
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change in the ZFB domain
Description Allele 2: A point mutation in the exon 2 leading to an
Description amino acid change
Date 28-Feb-2019 (Rel. 1, Created)
Date 28-Feb-2019 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (28-Feb-2019) to RAG1base.
RefLoc GIGLIOLA DI MATTEO; Via Montpellier, 1; Tel +390672596492;
RefLoc e-mail di.matteo@med.uniroma2.it
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8474
Feature /change: t -> c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2294
Feature /codon: tac -> cac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 728
Feature /change: Y -> H
Feature /domain: ZFB
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8163
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 1983
Feature /codon: cgt -> cat; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 624
Feature /change: R -> H
Diagnosis Leaky severe combined immunodeficiency
Age 10
Sex XY
Ethnic origin Caucasoid; Italia
Family history Inherited
//
ID L732F(1),L732F(1); standard; MUTATION;
Accession R0042
Systematic name Allele 1 and 2: g.8486C>T, c.2194C>T, r.2194c>u,
Systematic name p.Leu732Phe
Original code OM1
Description Allele 1 and 2: a point mutation in the exon 2 leading to
Description an amino acid change
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)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8486
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2306
Feature /codon: ctt -> ttt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 732
Feature /change: L -> F
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8486
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2306
Feature /codon: ctt -> ttt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 732
Feature /change: L -> F
Diagnosis Omenn Syndrome
Symptoms Infections:
Symptoms Failure to thrive; Erythrodermia; Protracted diarrhea;
Symptoms Others:
Symptoms eosinophilia
Sex XX
Family history Inherited
Parents consanguineous
Total lymphoc 8160
Eosinophils 952
IgE 215
CD19 0
//
ID R776Q(1),#A979-1(1); standard; MUTATION;
Accession R0083
Systematic name Allele 1: g.8619G>A, c.2327G>A, r.2327g>a,
Systematic name p.Arg776Gln
Systematic name Allele 2: g.9227_9229delGCC, c.2935_2937delGCC,
Systematic name r.2935_2937delgcc, p.Ala979del
Original code Case1
Description Allele 1: A point mutation in the exon 2 leading to
Description an amino acid change
Description Allele 2: An inframe deletion in the exon 2 leading
Description to an amino acid change
Date 16-Jun-2010 (Rel. 1, Created)
Date 16-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19458910
RefAuthors Karaca, N. E., Aksu, G., Genel, F., Gulez, N., Can, S.,
RefAuthors Aydinok, Y., Aksoylar, S., Karaca, E., Altuglu, I.,
RefAuthors Kutukculer, N.
RefTitle Diverse phenotypic and genotypic presentation of RAG1
RefTitle mutations in two cases with SCID.
RefLoc Clin Exp Med:339-342 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8619
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2439
Feature /codon: cgg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 776
Feature /change: R -> Q
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: RAG1_DNA: 9227..9229
Feature /change: -gcc
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 3047..3049
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: SWISS-PROT: RAG1_HUMAN: 979
Feature /change: -A
Diagnosis T and B cell-negative severe combined immunodeficiency
Symptoms Infections:
Symptoms Failure to thrive; Hepatomegaly; Protracted diarrhea;
Symptoms Others:
Symptoms BCG adenitis
Age 1.1
Sex XX
Ethnic origin Turkey
IgA <0.06
IgG <1.54
IgM <0.16
//
ID R778G(1),K992R(1); standard; MUTATION;
Accession R0077
Systematic name Allele 1: g.8624C>G, c.2332C>G, r.2332c>g, p.Arg778Gly
Systematic name Allele 2: g.9267A>G, c.2975A>G, r.2975a>g, p.Lys992Arg
Original code P62
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the exon 2 leading to an
Description amino acid change
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: RAG1_DNA: 8624
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2444
Feature /codon: cgg -> ggg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 778
Feature /change: R -> G
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 9267
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 3087
Feature /codon: aaa -> aga; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 992
Feature /change: K -> R
Diagnosis Omenn Syndrome
//
ID R778Q(1),R975W(1); standard; MUTATION; ,BV
Accession R0089
Systematic name Allele 1: g.8625G>A, c.2333G>A, r.2333g>a, p.Arg778Gln
Systematic name Allele 2: g.9215C>T, c.2923C>T, r.2923c>u, p.Arg975Trp
Original code P.2
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the exon 2 leading to an
Description amino acid change in the BV domain
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: RAG1_DNA: 8625
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2445
Feature /codon: cgg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 778
Feature /change: R -> Q
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 9215
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 3035
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 975
Feature /change: R -> W
Feature /domain: BV
Diagnosis T and B cell-negative severe combined immunodeficiency
Symptoms Skin lesions; Recurrent broncho-pneumonia; Severe
Symptoms varicella infection in infancy; Vaccine-induced measles;
Age 7.8
Sex XX
IgA 36-135 mg/dl
IgG 500-1360 mg/dl
IgM 72-190 mg/dl
Comment Patient had received stem-cell transplantation from a
Comment matched unrelated donor.
//
ID R778W(1),R778W(1); standard; MUTATION;
Accession R0073
Systematic name Allele 1 and 2: g.8624C>T, c.2332C>T, r.2332c>u,
Systematic name p.Arg778Trp
Original code P58
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
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: RAG1_DNA: 8624
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2444
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 778
Feature /change: R -> W
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8624
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2444
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 778
Feature /change: R -> W
Diagnosis T and B cell-negative severe combined immunodeficiency
Age 0
Sex XX
//
ID R841W(2),R841W(2); standard; MUTATION; BIV,BIV
Accession R0061
Systematic name Allele 1 and 2: g.8813C>T, c.2521C>T, r.2521c>u,
Systematic name p.Arg841Trp
Original code P3
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change in the BIV domain
Date 26-May-2008 (Rel. 1, Created)
Date 26-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16276422
RefAuthors de Villartay, J. P., Lim, A., Al-Mousa, H., Dupont, S.,
RefAuthors Dechanet-Merville, J., Coumau-Gatbois, E., Gougeon, M. L.,
RefAuthors Lemainque, A., Eidenschenk, C., Jouanguy, E., Abel, L.,
RefAuthors Casanova, J. L., Fischer, A., Le Deist, F.
RefTitle A novel immunodeficiency associated with hypomorphic RAG1
RefTitle mutations and CMV infection.
RefLoc J Clin Invest:3291-3299 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8813
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2633
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 841
Feature /change: R -> W
Feature /domain: BIV
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8813
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2633
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 841
Feature /change: R -> W
Feature /domain: BIV
Symptoms Infections:
Symptoms Pneumonia;
Symptoms Others:
Symptoms severe persistent CMV infection, anemia, hepatosplenomegaly
Age 0,5
Sex XY
Ethnic origin Caucasoid; Lebanon
Total lymphoc 3-5
Eosinophils 0.06-0.1
IgA 0.38-0.48
IgG 6.5-12.2
IgM 0.07-0.85
CD3 68-81
CD4 6-9
CD8 4-10
CD19 4
Comment Diagnosis: immunodeficiency with gamma-delta-T cell
Comment expansion and autoimmunity
//
ID R841W(3),R841W(3); standard; MUTATION; BIV,BIV
Accession R0085
Systematic name Allele 1 and 2: g.8813C>T, c.2521C>T, r.2521c>u,
Systematic name p.Arg841Trp
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change in the BIV domain
Date 16-Jun-2010 (Rel. 1, Created)
Date 16-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19246248
RefAuthors McCusker, C., Hotte, S., Le Deist, F., Hirschfeld, A. F.,
RefAuthors Mitchell, D., Nguyen, V. H., Gagnon, R., Mazer, B.,
RefAuthors Turvey, S. E., Jabado, N.
RefTitle Relative CD4 lymphopenia and a skewed memory phenotype are
RefTitle the main immunologic abnormalities in a child with omenn
RefTitle syndrome due to homozygous RAG1-C2633T hypomorphic
RefTitle mutation.
RefLoc Clin Immunol:447-455 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8813
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2633
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 841
Feature /change: R -> W
Feature /domain: BIV
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8813
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2633
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 841
Feature /change: R -> W
Feature /domain: BIV
Diagnosis Omenn Syndrome
Symptoms Others:
Symptoms alopecia
Age 0.9
Sex XX
Ethnic origin Canada
Relative mother heterozygous carrier of 2633 c>t and homozygous of
Relative SNP 2571 a/g
Relative father heterozygous carrier of 2633 c>t and SNP 2571 a/g
Total lymphoc 3,300
Eosinophils 1,500
IgA 0.013
IgG 0.0989
IgM 0.0064
Comment SNP at 2571 a/g
//
ID N855I(1),N855I(1); standard; MUTATION;
Accession R0029
Systematic name Allele 1 and 2: g.2676A>T, c.2676A>T, p.N855I
Original code P11
Description Allele 1 and 2; missense mutation in the exon 2
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: HSRAG1: 2676
Feature /change: a -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 2676
Feature /codon: aac -> atc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 855
Feature /change: N -> I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG1: 2676
Feature /change: a -> t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 2676
Feature /codon: aac -> atc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 855
Feature /change: N -> I
Diagnosis Combined immunodeficiency with maternal fetal transfusion
Symptoms Failure to thrive; Protracted diarrhea
Age at onset 2 weeks
WBC 3.6
Total lymphoc 0.55
Eosin 0.18
IgA <0.05
IgE <5 kU/I
IgG 1.1
IgM <0.05
CD3 7
CD4 n.a.
CD45RA n.d.
CD45R0 n.d.
CD8 31
CD16 75
CD19/CD20 1
DR 25
PHA 0.2
MFT +
//
ID L872X(1),L872X(1); standard; MUTATION;
Accession R0010
Systematic name Allele 1 and 2: g.2727T>A, c.2727T>A, p.L872X
Original code P5
Description Allele 1 and 2; nonsense mutation in the exon 2
Description leading to stop codon and premature termination
Date 24-Feb-1999 (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: HSRAG1: 2727
Feature /change: t -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 2727
Feature /codon: tta -> taa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 872
Feature /change: L -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG1: 2727
Feature /change: t -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 2727
Feature /codon: tta -> taa; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 872
Feature /change: L -> X
Diagnosis T and B cell-negative severe combined immunodeficiency
Symptoms Failure to thrive
Age at onset 2 months
WBC n.a.
Total lymphoc n.a.
Eosin n.a.
IgA n.a.
IgE n.a.
IgG n.a.
IgM <0.01
CD3 <5
CD4 n.d.
CD45RA n.d.
CD45R0 n.d.
CD8 n.d.
CD16 n.d.
CD19/CD20 <5
DR n.d.
PHA 1
MFT -
//
ID W896R(1),W896R(1); standard; MUTATION;
Accession R0055
Systematic name Allele 1 and 2: g.8978T>C, c.2686T>C, r.2686u>c,
Systematic name p.Trp896Arg
Description Allele 1 and 2: a point mutation in the exon 2 leading to
Description an amino acid change
Date 18-Jan-2006 (Rel. 1, Created)
Date 18-Jan-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16061569
RefAuthors Zhang, J., Quintal, L., Atkinson, A., Williams, B.,
RefAuthors Grunebaum, E., Roifman, C. M.
RefTitle Novel RAG1 mutation in a case of severe combined
RefTitle immunodeficiency.
RefLoc Pediatrics 116:e445-449 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8978
Feature /change: t -> c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2798
Feature /codon: tgg -> cgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 896
Feature /change: W -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 8978
Feature /change: t -> c
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2798
Feature /codon: tgg -> cgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 896
Feature /change: W -> R
Diagnosis Leaky severe combined immunodeficiency
Symptoms Others:
Symptoms pneumonitis
Age 4,5 mo
Sex XX
Ethnic origin Pakistani
Family history Inherited
Comment Patient died shortly after BMT as a result of overwhelming
Comment cytomegalovirus infection
//
ID Y938X(1),Y938X(1); standard; MUTATION;
Accession R0002
Systematic name Allele 1 and 2: g.2926T>G, c.2926T>G, p.Y938X
Original code P2 ref [1]; P14 ref [2]
Description Allele 1 and 2; nonsense mutation in the exon 2 leading
Description to stop codon and premature termination
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; 179615.0003
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: HSRAG1: 2926
Feature /change: t -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 2926
Feature /codon: tat -> tag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 938
Feature /change: Y -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG1: 2926
Feature /change: t -> g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 2926
Feature /codon: tat -> tag; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 938
Feature /change: Y -> X
Diagnosis Combined immunodeficiency with maternal fetal transfusion
Symptoms Failure to thrive; Erythrodermia; Skin rash;
Symptoms Lymphoadenopathy; Hepatomegaly; Splenomegaly; Protracted
Symptoms diarrhea
Age at onset 1 month
Sex XX
Family history inherited
Parents consanguineous
WBC 5.0
Total lymphoc 1.5
Eosin 2.0
IgA <0.05
IgE 2.7 kU/I
IgG <2.5
IgM <0.05
CD3 15
CD4 4
CD45RA n.d.
CD45R0 n.d.
CD8 10
CD16 67
CD19/CD20 <1
DR n.d.
PHA 28
MFT +
//
ID I956T(1),I956T(1); standard; MUTATION;
Accession R0067
Systematic name Allele 1 and 2: g.9159T>C, c.2867T>C, r.2867u>c,
Systematic name p.Ile956Thr
Original code P50
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
Date 26-May-2008 (Rel. 1, Created)
Date 26-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: RAG1_DNA: 9159
Feature /change: t -> c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2979
Feature /codon: att -> act; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 956
Feature /change: I -> T
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 9159
Feature /change: t -> c
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 2979
Feature /codon: att -> act; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 956
Feature /change: I -> T
Diagnosis Omenn Syndrome
Symptoms Infections:
Symptoms Failure to thrive; Erythrodermia; Skin rash; Pneumonia;
Symptoms Lymphoadenopathy; Hepatomegaly; Splenomegaly; Protracted
Symptoms diarrhea;
Symptoms Others:
Symptoms Recurrent URTI, Generalised oedema
Age 0.1
WBC 33.5
IgA 0.13
IgG 8.46
IgM 2.13
CD3 12.2
CD4 5.96
CD8 6.82
//
ID W959X(1),W959X(1); standard; MUTATION;
Accession R0016
Systematic name Allele 1 and 2: g.2988G>A, c.2988G>A, p.W959X
Original code P13
Description Allele 1 and 2; nonsense mutation leading to stop codon
Description and premature termination
Date 01-Mar-1999 (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: HSRAG1: 2988
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 2988
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 959
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: HSRAG1: 2988
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: M29474; g131827; HSRAG1: 2988
Feature /codon: tgg -> tag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P15918; RAG1_HUMAN: 959
Feature /change: W -> X
Diagnosis Combined immunodeficiency with maternal fetal transfusion
Symptoms Failure to thrive; Skin rash; Pneumonia; Lymphoadenopathy
Age at onset 2 weeks
WBC 15
Total lymphoc 10.5
Eosin 0.15
IgA 0.18
IgE n.d.
IgG 40
IgM 6.41
CD3 15
CD4 10
CD45RA <5
CD45R0 >95
CD8 11
CD16 19
CD19/CD20 <1
DR 61
PHA 7
MFT +
//
ID R973H(1),R973H(1); standard; MUTATION;
Accession R0043
Systematic name Allele 1 and 2: g.9210G>A, c.2918G>A, r.2918g>a,
Systematic name p.Arg973His
Original code OM2
Description Allele 1 and 2: a point mutation in the exon 2 leading to
Description an amino acid change
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)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 9210
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 3030
Feature /codon: cgc -> cac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 973
Feature /change: R -> H
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 9210
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 3030
Feature /codon: cgc -> cac; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 973
Feature /change: R -> H
Diagnosis Omenn Syndrome
Symptoms Infections:
Symptoms Failure to thrive; Erythrodermia; Protracted diarrhea;
Symptoms Others:
Symptoms eosinophilia
Age at onset 4 month
Sex XX
Family history inherited
Parents consanguineous
Total lymphoc 9500
Eosinophils 1390
IgE >3000
//
ID Q981P(1),Q981P(1); standard; MUTATION;
Accession R0060
Systematic name Allele 1 and 2: g.9234A>C, c.2942A>C, r.2942a>c,
Systematic name p.Gln981Pro
Original code P2
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
Date 26-May-2008 (Rel. 1, Created)
Date 26-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16276422
RefAuthors de Villartay, J. P., Lim, A., Al-Mousa, H., Dupont, S.,
RefAuthors Dechanet-Merville, J., Coumau-Gatbois, E., Gougeon, M. L.,
RefAuthors Lemainque, A., Eidenschenk, C., Jouanguy, E., Abel, L.,
RefAuthors Casanova, J. L., Fischer, A., Le Deist, F.
RefTitle A novel immunodeficiency associated with hypomorphic RAG1
RefTitle mutations and CMV infection.
RefLoc J Clin Invest:3291-3299 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 9234
Feature /change: a -> c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 3054
Feature /codon: cag -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 981
Feature /change: Q -> P
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: RAG1_DNA: 9234
Feature /change: a -> c
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: M29474; GI:131827; HSRAG1: 3054
Feature /codon: cag -> ccg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RAG1_HUMAN: 981
Feature /change: Q -> P
Symptoms Infections:
Symptoms Pneumonia; Protracted diarrhea;
Symptoms Others:
Symptoms severe persistent CMV infection, anemia, neutropenia
Age 0,5
Sex XX
Ethnic origin Caucasoid; Morocco
Total lymphoc 3-5
Eosinophils 0.06-0.1
IgA 0.3-1.2
IgG 7-12.4
IgM 2.4-4.26
CD3 47-78
CD4 5-21
CD8 6-16
CD19 3-51
Comment Diagnosis: immunodeficiency with gamma-delta-T cell
Comment expansion and autoimmunity
//
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