PR:000000359 hACVRL1/var:D179A UniProtKB:P37023, Asp-179, CHEBI:46217 | serine/threonine-protein kinase receptor R3 sequence variant 8 (human) "A serine/threonine-protein kinase receptor R3 (human) that has an Ala residue at the position equivalent to Asp-179 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Asp-179, CHEBI:46217." [PMID:14684682, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:14684682 |