PR:000000258 hCOMP/var:C328R UniProtKB:P49747, Cys-328, CHEBI:29952 | UniProtKB:P49747-1, Cys-328, CHEBI:29952 | cartilage oligomeric matrix protein sequence variant 4 (human) "A cartilage oligomeric matrix protein (human) that has an Arg residue at the position equivalent to Cys-328 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Cys-328, CHEBI:29952." [PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
UniProtKB_VAR:VAR_007616 |