Sequence information
Variant position: 530 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:
EKRATKPKGLIDLSVCSVYV
V HDSLFGRPNCFQIVVQHFSE
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 EKRATKPKGLIDLSVCSVYVV HDSLFGRPNCFQIVVQHFSE
Rat EKRATKPKGLIDLSVCSVYVV HDSLFGRPNCFQIVVQHFSE
Bovine EKRATKPKGLIDLSVCSVYVV HDSLFGRPNCFQIVVQHFSE
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
1 – 1047
Ras GTPase-activating protein 1
Domain
474 – 577
PH
Literature citations
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.
Revencu N.; Boon L.M.; Mendola A.; Cordisco M.R.; Dubois J.; Clapuyt P.; Hammer F.; Amor D.J.; Irvine A.D.; Baselga E.; Dompmartin A.; Syed S.; Martin-Santiago A.; Ades L.; Collins F.; Smith J.; Sandaradura S.; Barrio V.R.; Burrows P.E.; Blei F.; Cozzolino M.; Brunetti-Pierri N.; Vicente A.; Abramowicz M.; Desir J.; Vilain C.; Chung W.K.; Wilson A.; Gardiner C.A.; Dwight Y.; Lord D.J.; Fishman L.; Cytrynbaum C.; Chamlin S.; Ghali F.; Gilaberte Y.; Joss S.; Boente Mdel C.; Leaute-Labreze C.; Delrue M.A.; Bayliss S.; Martorell L.; Gonzalez-Ensenat M.A.; Mazereeuw-Hautier J.; O'Donnell B.; Bessis D.; Pyeritz R.E.; Salhi A.; Tan O.T.; Wargon O.; Mulliken J.B.; Vikkula M.;
Hum. Mutat. 34:1632-1641(2013)
Cited for: VARIANTS CMAVM1 CYS-528; ASP-530; GLU-626 AND VAL-763;
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.