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Protein Ontology report - serine/threonine-protein kinase receptor R3 sequence variant GA48/49EP (human)
PR:000000355 - http://purl.obolibrary.org/obo/PR_000000355
 
    Annotations      
Ontology Information Show OBO stanza / PAF / GPI
  PRO ID
PR:000000355   
  PRO nameserine/threonine-protein kinase receptor R3 sequence variant GA48/49EP (human) 
  Synonyms
PRO-Short-label: EXACT:hACVRL1/var:GA48/49EP
PRO-proteoform-std: EXACT:UniProtKB:P37023, Gly-48, CHEBI:29972|Ala-49, CHEBI:46217
Other: EXACT:serine/threonine-protein kinase receptor R3 sequence variant 44 (human)
  Definition"A serine/threonine-protein kinase receptor R3 (human) that has Glu and Pro residues at positions equivalent to Gly-48 and Ala-49 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Gly-48, CHEBI:29972|Ala-49, CHEBI:46217." [PMID:10767348, PRO:CNA, PRO:DAN] 
  PRO Categoryorganism-sequence 
  ParentPR:P37023 serine/threonine-protein kinase receptor R3 (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
UniProtKB_VAR:VAR_026784
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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000000355 hACVRL1/var:GA48/49EP
UniProtKB:P37023, Gly-48, CHEBI:29972|Ala-49, CHEBI:46217
associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia UniProtKB_VAR:VAR_026784