PR:000000340 hACVRL1/var:I398N UniProtKB:P37023, Ile-398, CHEBI:50347 | serine/threonine-protein kinase receptor R3 sequence variant 30 (human) "A serine/threonine-protein kinase receptor R3 (human) that has an Asn residue at the position equivalent to Ile-398 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Ile-398, CHEBI:50347." [PMID:11170071, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:1270 hereditary hemorrhagic telangiectasia |
PMID:11170071 |