PR:000000336 hACVRL1/var:E379K UniProtKB:P37023, Glu-379, CHEBI:29967 | serine/threonine-protein kinase receptor R3 sequence variant 27 (human) "A serine/threonine-protein kinase receptor R3 (human) that has a Lys residue at the position equivalent to Glu-379 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Glu-379, CHEBI:29967." [PMID:15024723, PMID:15712270, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:15024723; PMID:15712270 |