PR:000000327 hACVRL1/var:H314Y UniProtKB:P37023, His-314, CHEBI:46858 | serine/threonine-protein kinase receptor R3 sequence variant 19 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Tyr residue at the position equivalent to His-314 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, His-314, CHEBI:46858." [PMID:15024723, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15024723 |