Database        NRASbase
Version         1.0
File            nraspub.html
Date            06-Sep-2007
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/NRASbase/
IDR factfile    http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF162.html
Gene            NRAS
Disease         Autoimmune lymphoproliferative syndrome type IV
OMIM            164790
Sequence        IDRefSeq:D0125; IDRefSeq:C0125; UniProt:P01111 
Numbering       start of the entry
Funding         Tampere University Hospital Medical Research Fund
Funding         European Union
Comments        sequence entry reference in every entry
//
ID              G13D(1); standard; MUTATION;
Accession       N0003
Systematic name g.40791G>A, c.38G>A, r.38g>a, p.Gly13Asp
Original code   P58
Description     A point mutation in the exon 2 leading to an amino acid
Description     change
Date            15-Aug-2007 (Rel. 1, Created)
Date            15-Aug-2007 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17517660
RefAuthors      Oliveira, J. B., Bidere, N., Niemela, J. E., Zheng, L., 
RefAuthors      Sakai, K., Nix, C. P., Danner, R. L., Barb, J., Munson, P. 
RefAuthors      J., Puck, J. M., Dale, J., Straus, S. E., Fleisher, T. A., 
RefAuthors      Lenardo, M. J.
RefTitle        NRAS mutation causes a human autoimmune 
RefTitle        lymphoproliferative syndrome.
RefLoc          Proc Natl Acad Sci U S A:8953-8958 (2007)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0125: 40791
Feature           /change: g -> a
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0125: 291
Feature           /codon: ggt -> gat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: P01111; RASN_HUMAN: 13
Feature           /change: G -> D
Symptoms        Lifelong overexpansion of lymphocytes, and an unusual
Symptoms        history of two malignancies: childhood leukemia and early
Symptoms        adulthood lymphoma, both succesfully treated, lifelong
Symptoms        lymphadenopathy and splenomegaly
Age             49
Sex             XY
//