Sequence information
Variant position: 764 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1089 The length of the canonical sequence.
Location on the sequence:
PMLERKEVSKYSDIQRSLYD
R PASYKKKSMLDSEVKNLLSD
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human PMLERKEVSKYSDIQRSLYDR PASYKKKSMLDSEVKNLLSD
Mouse PMLERKEVSKYSDIQRSLYDR PASYKKKSMLDSEVKNLLSD
Rat PMLERKEVSKYSDIQRSLYDR PASYKKKSMLDSEAKNLLSD
Chicken PMLERKEGSKYSDIQRSVYDR PASYKKKSLSESEVKNLLSD
Xenopus laevis PMLEMKEPSKYSDIQRSLYDR PASYKKKPL--SEVKNILSD
Zebrafish PMLEMNEASKYSPIQRSDYDH PPSHRQ---FNDEAESLLSD
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
Chain
24 – 1089
Platelet-derived growth factor receptor alpha
Topological domain
550 – 1089
Cytoplasmic
Domain
593 – 954
Protein kinase
Modified residue
754 – 754
Phosphotyrosine; by autocatalysis
Modified residue
762 – 762
Phosphotyrosine; by autocatalysis
Modified residue
768 – 768
Phosphotyrosine; by autocatalysis
Alternative sequence
219 – 1089
Missing. In isoform 2.
Alternative sequence
744 – 1089
Missing. In isoform 3.
Mutagenesis
762 – 762
Y -> F. Abolishes interaction with CRK.
Literature citations
Patterns of somatic mutation in human cancer genomes.
Greenman C.; Stephens P.; Smith R.; Dalgliesh G.L.; Hunter C.; Bignell G.; Davies H.; Teague J.; Butler A.; Stevens C.; Edkins S.; O'Meara S.; Vastrik I.; Schmidt E.E.; Avis T.; Barthorpe S.; Bhamra G.; Buck G.; Choudhury B.; Clements J.; Cole J.; Dicks E.; Forbes S.; Gray K.; Halliday K.; Harrison R.; Hills K.; Hinton J.; Jenkinson A.; Jones D.; Menzies A.; Mironenko T.; Perry J.; Raine K.; Richardson D.; Shepherd R.; Small A.; Tofts C.; Varian J.; Webb T.; West S.; Widaa S.; Yates A.; Cahill D.P.; Louis D.N.; Goldstraw P.; Nicholson A.G.; Brasseur F.; Looijenga L.; Weber B.L.; Chiew Y.-E.; DeFazio A.; Greaves M.F.; Green A.R.; Campbell P.; Birney E.; Easton D.F.; Chenevix-Trench G.; Tan M.-H.; Khoo S.K.; Teh B.T.; Yuen S.T.; Leung S.Y.; Wooster R.; Futreal P.A.; Stratton M.R.;
Nature 446:153-158(2007)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] ASP-79; ASP-426; PRO-478; CYS-764; ARG-829; LYS-996 AND ASN-1071;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.