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Protein Ontology report - serine/threonine-protein kinase receptor R3 sequence variant D254del (human)
PR:000000323 - http://purl.obolibrary.org/obo/PR_000000323
 
    Annotations      
Ontology Information Show OBO stanza / PAF / GPI
  PRO ID
PR:000000323   
  PRO nameserine/threonine-protein kinase receptor R3 sequence variant D254del (human) 
  Synonyms
PRO-Short-label: EXACT:hACVRL1/var:D254del
PRO-proteoform-std: EXACT:UniProtKB:P37023, 22-253, 255-503
Other: EXACT:serine/threonine-protein kinase receptor R3 sequence variant 15 (human)
  Definition"A serine/threonine-protein kinase receptor R3 (human) that has a single-residue deletion at the position equivalent to Asp-254 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, 22-253, 255-503." [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_026793
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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000000323 hACVRL1/var:D254del
UniProtKB:P37023, 22-253, 255-503
associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia UniProtKB_VAR:VAR_026793
enablesNOT GO:0004675 transmembrane receptor protein serine/threonine kinase activity PMID:14684682
located_inGO:0005783 endoplasmic reticulum PMID:14684682