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Protein Ontology report - cartilage oligomeric matrix protein sequence variant T585M (human)
PR:000000247 - http://purl.obolibrary.org/obo/PR_000000247
 
    Annotations      
Ontology Information Show OBO stanza / PAF / GPI
  PRO ID
PR:000000247   
  PRO namecartilage oligomeric matrix protein sequence variant T585M (human) 
  Synonyms
PRO-Short-label: EXACT:hCOMP/var:T585M
PRO-proteoform-std: EXACT:UniProtKB:P49747, Thr-585, CHEBI:16044
NARROW:UniProtKB:P49747-1, Thr-585, CHEBI:16044
Other: EXACT:cartilage oligomeric matrix protein sequence variant 24 (human)
  Definition"A cartilage oligomeric matrix protein (human) that has a Met residue at the position equivalent to Thr-585 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Thr-585, CHEBI:16044." [PMID:11565064, PRO:CNA, PRO:DAN] 
  PRO Categoryorganism-sequence 
  ParentPR:P49747 cartilage oligomeric matrix protein (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Term Hierarchy
  Visualization
DAG: OLS:
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Functional Annotation (GO-centric view) Switch to PRO Centric View     

Disease Associated GO Term

Protein Forms & Complexes

Evidence
DO:0080047 pseudoachondroplasiaPR:000000247 hCOMP/var:T585M PMID:11565064
DO:12721 multiple epiphyseal dysplasiaPR:000000247 hCOMP/var:T585M PMID:11565064