Database for pathogenic variations in the p85α SH2 domain

Database        PIK3R1base 
Version         1.00
File            PIK3R1base.txt
Date            22-Feb-2008
Curator         Janita Thusberg
Address         Institute of Medical Technology, University of Tampere,
Address         POB 607, FIN-33101 Tampere, Finland
Phone           +358-3-3551 8915
Email           janita.thusberg@uta.fi
URL             http://structure.bmc.lu.se/idbase/PTPN11base/    
Gene            PIK3R1
Disease         Severe insulin deficiency
OMIM            171833
Sequence        SH2base:PIK3R1_DNA; Genbank:NM_181523.1; UniProt:P20936
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              R409Q(1); standard; MUTATION; SH2_1
Accession       A0001
Systematic name g.78635G>A, c.1226G>A, r.1226g>a, p.Arg409Gln
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the SH2_1 domain
Date            20-Feb-2008 (Rel. 1, Created)
Date            20-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10768093
RefAuthors      Baynes, K. C., Beeton, C. A., Panayotou, G., Stein, R., 
RefAuthors      Soos, M., Hansen, T., Simpson, H., O'Rahilly, S., 
RefAuthors      Shepherd, P. R., Whitehead, J. P.
RefTitle        Natural variants of human p85 alpha phosphoinositide 3-
RefTitle        kinase in severe insulin resistance: a novel variant with 
RefTitle        impaired insulin-stimulated lipid kinase activity.
RefLoc          Diabetologia:321-331 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: SH2base: PIK3R1_DNA: 78635
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_181523.1; GI:32455247
Feature           /codon: cgg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: P27986; P85A_HUMAN: 409
Feature           /change: R -> Q
Feature           /domain: SH2_1
Diagnosis       Severe insulin resistance