PR:000000352 hACVRL1/var:A482V UniProtKB:P37023, Ala-482, CHEBI:30015 | serine/threonine-protein kinase receptor R3 sequence variant 41 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Val residue at the position equivalent to Ala-482 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Ala-482, CHEBI:30015." [PMID:15024723, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15024723 |