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Protein Ontology report - cartilage oligomeric matrix protein sequence variant N523K (human) PR:000000246 - http://purl.obolibrary.org/obo/PR_000000246        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000000246      PRO name cartilage oligomeric matrix protein sequence variant N523K (human)    Synonyms PRO-Short-label: EXACT: hCOMP/var:N523K PRO-proteoform-std: EXACT: UniProtKB:P49747, Asn-523, CHEBI:29967 NARROW: UniProtKB:P49747-1, Asn-523, CHEBI:29967 Other: EXACT: cartilage oligomeric matrix protein sequence variant 23 (human)   Definition "A cartilage oligomeric matrix protein (human) that has a Lys residue at the position equivalent to Asn-523 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asn-523, CHEBI:29967." [PMID:9021009, 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_007640 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000000246 hCOMP/var:N523K UniProtKB:P49747, Asn-523, CHEBI:29967 | UniProtKB:P49747-1, Asn-523, CHEBI:29967 | cartilage oligomeric matrix protein sequence variant 23 (human) "A cartilage oligomeric matrix protein (human) that has a Lys residue at the position equivalent to Asn-523 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asn-523, CHEBI:29967." [PMID:9021009, PRO:CNA, PRO:DAN] associated_with_disease_progression DO:12721 multiple epiphyseal dysplasia PMID:9021009