PR:000000139 hBMPR1A/var:C124R UniProtKB:P36894, Cys-124, CHEBI:29952 | BMP receptor type-1A sequence variant 3 (human) "A bone morphogenetic protein receptor type-1A (human) that has an Arg residue at the position equivalent to Cys-124 of the amino acid sequence represented by UniProtKB:P36894. UniProtKB:P36894, Cys-124, CHEBI:29952." [PMID:11536076, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050787 juvenile polyposis syndrome |
PMID:11536076 |