PR:000000325 hACVRL1/var:L285F UniProtKB:P37023, Leu-285, CHEBI:29997 | serine/threonine-protein kinase receptor R3 sequence variant 17 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Phe residue at the position equivalent to Leu-285 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Leu-285, CHEBI:29997." [PMID:15024723, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15024723 |