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Protein Ontology report - cartilage oligomeric matrix protein sequence variant D372del (human) PR:000000250 - http://purl.obolibrary.org/obo/PR_000000250        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000000250      PRO name cartilage oligomeric matrix protein sequence variant D372del (human)    Synonyms PRO-Short-label: EXACT: hCOMP/var:D372del PRO-proteoform-std: EXACT: UniProtKB:P49747, 21-371, 373-757 NARROW: UniProtKB:P49747-1, 21-371, 373-757 Other: EXACT: cartilage oligomeric matrix protein sequence variant 27 (human)   Definition "A cartilage oligomeric matrix protein (human) that has a single-residue deletion at the position equivalent to Asp-372 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, 21-371, 373-757." [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_007623 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000000250 hCOMP/var:D372del UniProtKB:P49747, 21-371, 373-757 | UniProtKB:P49747-1, 21-371, 373-757 | cartilage oligomeric matrix protein sequence variant 27 (human) "A cartilage oligomeric matrix protein (human) that has a single-residue deletion at the position equivalent to Asp-372 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, 21-371, 373-757." [PRO:CNA, PRO:DAN] associated_with_disease_progression DO:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007623