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Protein Ontology report - cartilage oligomeric matrix protein sequence variant C468Y (human) PR:000000239 - http://purl.obolibrary.org/obo/PR_000000239        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000000239      PRO name cartilage oligomeric matrix protein sequence variant C468Y (human)    Synonyms PRO-Short-label: EXACT: hCOMP/var:C468Y PRO-proteoform-std: EXACT: UniProtKB:P49747, Cys-468, CHEBI:46858 NARROW: UniProtKB:P49747-1, Cys-468, CHEBI:46858 Other: EXACT: cartilage oligomeric matrix protein sequence variant 17 (human)   Definition "A cartilage oligomeric matrix protein (human) that has a Tyr residue at the position equivalent to Cys-468 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Cys-468, CHEBI:46858." [PMID:7670471, PMID:9452026, PRO:CNA, PRO:DAN]    PRO Category organism-sequence    Parent PR:P49747 cartilage oligomeric matrix protein (human)   Taxon NCBITaxon:9606 Homo sapiens   Term Hierarchy   Visualization DAG: OLS: Back to top Related Cross References   Db identifiers UniProtKB_VAR:VAR_007632 Back to top Functional Annotation (GO-centric view) Switch to PRO Centric View       Disease Associated GO Term Protein Forms & Complexes Evidence DO:0080047 pseudoachondroplasia PR:000000239 hCOMP/var:C468Y PMID:7670471; PMID:9452026