Variant position: 846 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:
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 LAQGKIVKICDFGLARDIMH DSNYVSKGSTFLPVKWMAPES
Mouse LAQGKIVKICDFGLARDIMH DSNYVSKGSTFLPVKWMAPES
Rat LAQGKIVKICDFGLARDIMH DSNYVSKGSTFLPVKWMAPES
Chicken LAQGKIVKICDFGLARDIMH DSNYVSKGSTFLPVKWMAPES
Xenopus laevis LAHGKIVKICDFGLARDIMH DSNYVSKGSTFLPVKWMAPES
Zebrafish LSQGKIVKICDFGLARDIMH DNNYVSKGSTFLPVKWMAPES
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
24 – 1089 Platelet-derived growth factor receptor alpha
550 – 1089 Cytoplasmic
593 – 954 Protein kinase
849 – 849 Phosphotyrosine; by autocatalysis
219 – 1089 Missing. In isoform 2.
744 – 1089 Missing. In isoform 3.
PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor.
Chompret A.; Kannengiesser C.; Barrois M.; Terrier P.; Dahan P.; Tursz T.; Lenoir G.M.; Bressac-De Paillerets B.;
Cited for: INVOLVEMENT IN GISTPS; VARIANT GISTPS TYR-846;
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