PR:000000354 hACVRL1/var:K487T UniProtKB:P37023, Lys-487, CHEBI:30013 | serine/threonine-protein kinase receptor R3 sequence variant 43 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Thr residue at the position equivalent to Lys-487 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Lys-487, CHEBI:30013." [PMID:14684682, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:14684682 |