PR:000000235 hCOMP/var:G440E UniProtKB:P49747, Gly-440, CHEBI:29972 | UniProtKB:P49747-1, Gly-440, CHEBI:29972 | cartilage oligomeric matrix protein sequence variant 13 (human) "A cartilage oligomeric matrix protein (human) that has a Glu residue at the position equivalent to Gly-440 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Gly-440, CHEBI:29972." [PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
UniProtKB_VAR:VAR_007628 |