PR:000000242 hCOMP/var:D290N UniProtKB:P49747, Asp-290, CHEBI:50347 | UniProtKB:P49747-1, Asp-290, CHEBI:50347 | cartilage oligomeric matrix protein sequence variant 2 (human) "A cartilage oligomeric matrix protein (human) that has an Asn residue at the position equivalent to Asp-290 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asp-290, CHEBI:50347." [PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
UniProtKB_VAR:VAR_007614 |