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   RASA1base
   Variation registry for  Database for pathogenic variations in the RasGAP SH2 domain


Database        RASA1base
Version         1.00
File            RASA1base.txt
Date            22-Feb-2008
Curator         Janita Thusberg
Address         Institute of Medical Technology, 
Address         FI-33014 University of Tampere, Finland
Phone           +358-3-3551 8915
Email           janita.thusberg@uta.fi
Gene            RASA1
Disease         Basal Cell Carcinoma
OMIM            608354
Sequence        SH2base:RASA1_DNA; EMBL:M23379; UniProt:P20936
Numbering       start of the entry
Reference       Lappalainen et al., Genome wide analysis of pathogenic 
Reference       SH2 domain mutations. 
Reference       Proteins, 2008 Feb 7 [Epub ahead of print]
Reference       PMID: 18260110
Funding         Finnish acedemy; Instrumentariumin tiedesaatio; Sigrid
Funding         Juselius Foundation; European concerted action 'PL963007'
Funding         Tampere University Hospital Medical Research Fund
Funding	        Tampere Graduate School in Biomedicine and Biotechnology
Comments        sequence entry reference in every entry;
//
ID              R398L(1); standard; MUTATION; SH2_2
Accession       A0001
Systematic name g.82417G>T, c.1193G>T, r.1193g>u, p.Arg398Leu
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the SH2_2 domain
Date            20-Feb-2008 (Rel. 1, Created)
Date            20-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8275088
RefAuthors      Friedman, E., Gejman, P. V., Martin, G. A., McCormick, F.
RefTitle        Nonsense mutations in the C-terminal SH2 region of the 
RefTitle        GTPase activating protein (GAP) gene in human tumours.
RefLoc          Nat Genet:242-247 (1993)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: RASA1_DNA: 82417
Feature           /change: g -> t
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M23379; GI:182971; M23379: 1311
Feature           /codon: cga -> cta; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: P20936; RASA1_HUMAN: 398
Feature           /change: R -> L
Feature           /domain: SH2_2
Diagnosis       Basal cell carcinoma
//
ID              K400E(1); standard; MUTATION; SH2_2
Accession       A0002
Systematic name g.82422A>G, c.1198A>G, r.1198a>g, p.Lys400Glu
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the SH2_2 domain
Date            20-Feb-2008 (Rel. 1, Created)
Date            20-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8275088
RefAuthors      Friedman, E., Gejman, P. V., Martin, G. A., McCormick, F.
RefTitle        Nonsense mutations in the C-terminal SH2 region of the 
RefTitle        GTPase activating protein (GAP) gene in human tumours.
RefLoc          Nat Genet:242-247 (1993)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: RASA1_DNA: 82422
Feature           /change: a -> g
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M23379; GI:182971; M23379: 1316
Feature           /codon: aaa -> gaa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: P20936; RASA1_HUMAN: 400
Feature           /change: K -> E
Feature           /domain: SH2_2
Diagnosis       Basal cell carcinoma
//
ID              I401V(1); standard; MUTATION; SH2_2
Accession       A0003
Systematic name g.82425A>G, c.1201A>G, r.1201a>g, p.Ile401Val
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the SH2_2 domain
Date            20-Feb-2008 (Rel. 1, Created)
Date            20-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8275088
RefAuthors      Friedman, E., Gejman, P. V., Martin, G. A., McCormick, F.
RefTitle        Nonsense mutations in the C-terminal SH2 region of the 
RefTitle        GTPase activating protein (GAP) gene in human tumours.
RefLoc          Nat Genet:242-247 (1993)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: RASA1_DNA: 82425
Feature           /change: a -> g
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M23379; GI:182971; M23379: 1319
Feature           /codon: ata -> gta; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: P20936; RASA1_HUMAN: 401
Feature           /change: I -> V
Feature           /domain: SH2_2
Diagnosis       Basal cell carcinoma
//