PR:000000232 hCOMP/var:C387G UniProtKB:P49747, Cys-387, CHEBI:29947 | UniProtKB:P49747-1, Cys-387, CHEBI:29947 | cartilage oligomeric matrix protein sequence variant 10 (human) "A cartilage oligomeric matrix protein (human) that has a Gly residue at the position equivalent to Cys-387 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Cys-387, CHEBI:29947." [PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
UniProtKB_VAR:VAR_007625 |