Variant position: 540 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1047 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 IDLSVCSVYVVHDSLFGRPN CFQIVVQHFSEEHYIFYFAGE
Rat IDLSVCSVYVVHDSLFGRPN CFQIVVQHFSEEHYIFYFAGE
Bovine IDLSVCSVYVVHDSLFGRPN CFQIVVQHFSEEHYIFYFAGE
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
1 – 1047 Ras GTPase-activating protein 1
474 – 577 PH
540 – 1047 Missing. In isoform 3.
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.
Eerola I.; Boon L.M.; Mulliken J.B.; Burrows P.E.; Dompmartin A.; Watanabe S.; Vanwijck R.; Vikkula M.;
Am. J. Hum. Genet. 73:1240-1249(2003)
Cited for: VARIANT CMAVM1 TYR-540;
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