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Protein Ontology Report - hCOMP/var:D482G

PR:000000243 - http://purl.obolibrary.org/obo/PR_000000243
Ontology Information
PRO ID PR:000000243 Show OBO stanza / PAF
PRO name cartilage oligomeric matrix protein sequence variant D482G (human)
Synonyms
PRO-short-label: hCOMP/var:D482G
EXACT: cartilage oligomeric matrix protein sequence variant 20 (human)
PRO-proteoform-std: UniProtKB:P49747-1, Asp-482, CHEBI:29947
Definition A cartilage oligomeric matrix protein (human) that has a Gly residue at the position equivalent to Asp-482 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asp-482, CHEBI:29947. [PMID:9452063, PRO:CNA, PRO:DAN]
PRO Category organism-sequence
Parent PR:P49747 cartilage oligomeric matrix protein (human)
Term Hierarchy Visualization DAG     OLS     Cytoscape


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Protein Forms
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation
PRO Term GO Annotation Evidence
PR:000000243
hCOMP/var:D482G
Asp-482, CHEBI:29947
associated_with_disease_progression DOID:0080047 pseudoachondroplasia PMID:9452063

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