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Protein Ontology report - growth/differentiation factor 5 sequence variant L441P (human)
PR:000000439 - http://purl.obolibrary.org/obo/PR_000000439
 
    Annotations      
Ontology Information Show OBO stanza / PAF / GPI
  PRO ID
PR:000000439   
  PRO namegrowth/differentiation factor 5 sequence variant L441P (human) 
  Synonyms
PRO-Short-label: EXACT:hGDF5/var:L441P
PRO-proteoform-std: EXACT:UniProtKB:P43026, Leu-441, CHEBI:50342
Other: EXACT:growth/differentiation factor 5 sequence variant 3 (human)
  Definition"A growth/differentiation factor 5 (human) that has a Pro residue at the position equivalent to Leu-441 of the amino acid sequence represented by UniProtKB:P43026. UniProtKB:P43026, Leu-441, CHEBI:50342." [PMID:12121354, PMID:16127465, PRO:CNA, PRO:DAN] 
  PRO Categoryorganism-sequence 
  ParentPR:P43026 growth/differentiation factor 5 (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
UniProtKB_VAR:VAR_017408
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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000000439 hGDF5/var:L441P
UniProtKB:P43026, Leu-441, CHEBI:50342
associated_with_disease_progressionDO:0050790 fibular hypoplasia and complex brachydactyly UniProtKB_VAR:VAR_017408