PR:000000140 hBMPR1A/var:C130R UniProtKB:P36894, Cys-130, CHEBI:29952 | BMP receptor type-1A sequence variant 4 (human) "A bone morphogenetic protein receptor type-1A (human) that has an Arg residue at the position equivalent to Cys-130 of the amino acid sequence represented by UniProtKB:P36894. UniProtKB:P36894, Cys-130, CHEBI:29952." [PMID:12136244, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050787 juvenile polyposis syndrome |
PMID:12136244 |