PR:000000248 hCOMP/var:T585R UniProtKB:P49747, Thr-585, CHEBI:29952 | UniProtKB:P49747-1, Thr-585, CHEBI:29952 | cartilage oligomeric matrix protein sequence variant 25 (human) "A cartilage oligomeric matrix protein (human) that has an Arg residue at the position equivalent to Thr-585 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Thr-585, CHEBI:29952." [PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:12721 multiple epiphyseal dysplasia |
UniProtKB_VAR:VAR_007642 |