PR:000000240 hCOMP/var:D472Y UniProtKB:P49747, Asp-472, CHEBI:46858 | UniProtKB:P49747-1, Asp-472, CHEBI:46858 | cartilage oligomeric matrix protein sequence variant 18 (human) "A cartilage oligomeric matrix protein (human) that has a Tyr residue at the position equivalent to Asp-472 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asp-472, CHEBI:46858." [PMID:7670471, PMID:9452026, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
PMID:7670471; PMID:9452026 |