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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 namecartilage 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 Categoryorganism-sequence 
  ParentPR:P49747 cartilage oligomeric matrix protein (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
UniProtKB_VAR:VAR_007623
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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000000250 hCOMP/var:D372del
Example: UniProtKB:P49747-1, 21-371, 373-757
associated_with_disease_progressionDO:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007623