PR:000000331 hACVRL1/var:C344Y UniProtKB:P37023, Cys-344, CHEBI:46858 | serine/threonine-protein kinase receptor R3 sequence variant 22 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Tyr residue at the position equivalent to Cys-344 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Cys-344, CHEBI:46858." [PMID:10767348, PMID:14684682, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:10767348; PMID:14684682 |