PR:000000341 hACVRL1/var:W399S UniProtKB:P37023, Trp-399, CHEBI:29999 | serine/threonine-protein kinase receptor R3 sequence variant 31 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Ser residue at the position equivalent to Trp-399 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Trp-399, CHEBI:29999." [PMID:11170071, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:11170071 |