PR:000000342 hACVRL1/var:E407D UniProtKB:P37023, Glu-407, CHEBI:29958 | serine/threonine-protein kinase receptor R3 sequence variant 32 (human) "A serine/threonine-protein kinase receptor R3 (human) that has an Asp residue at the position equivalent to Glu-407 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Glu-407, CHEBI:29958." [PMID:10767348, PMID:15712270, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:10767348; PMID:15712270 |