PR:000000138 hBMPR1A/var:C82Y UniProtKB:P36894, Cys-82, CHEBI:46858 | BMP receptor type-1A sequence variant 2 (human) "A bone morphogenetic protein receptor type-1A (human) that has a Tyr residue at the position equivalent to Cys-82 of the amino acid sequence represented by UniProtKB:P36894. UniProtKB:P36894, Cys-82, CHEBI:46858." [PMID:12417513, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050787 juvenile polyposis syndrome |
PMID:12417513 |