PR:000000238 hCOMP/var:D439V UniProtKB:P49747, Asp-439, CHEBI:30015 | UniProtKB:P49747-1, Asp-439, CHEBI:30015 | cartilage oligomeric matrix protein sequence variant 16 (human) "A cartilage oligomeric matrix protein (human) that has a Val residue at the position equivalent to Asp-439 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asp-439, CHEBI:30015." [PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
UniProtKB_VAR:VAR_007618 |