PR:000000241 hCOMP/var:D473G UniProtKB:P49747, Asp-473, CHEBI:29947 | UniProtKB:P49747-1, Asp-473, CHEBI:29947 | cartilage oligomeric matrix protein sequence variant 19 (human) "A cartilage oligomeric matrix protein (human) that has a Gly residue at the position equivalent to Asp-473 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asp-473, CHEBI:29947." [PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
UniProtKB_VAR:VAR_007635 |