PR:000000328 hACVRL1/var:W50C UniProtKB:P37023, Trp-50, CHEBI:29950 | serine/threonine-protein kinase receptor R3 sequence variant 2 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Cys residue at the position equivalent to Trp-50 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Trp-50, CHEBI:29950." [PMID:10767348, PMID:14684682, PMID:9245985, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:10767348; PMID:14684682; PMID:9245985 |