PR:000000351 hACVRL1/var:R479L UniProtKB:P37023, Arg-479, CHEBI:30006 | serine/threonine-protein kinase receptor R3 sequence variant 40 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Leu residue at the position equivalent to Arg-479 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-479, CHEBI:30006." [PMID:15024723, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15024723 |