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Protein Ontology report - serine/threonine-protein kinase receptor R3 sequence variant R411W (human)
PR:000000345 - http://purl.obolibrary.org/obo/PR_000000345
 
    Annotations      
Ontology Information Show OBO stanza / PAF / GPI
  PRO ID
PR:000000345   
  PRO nameserine/threonine-protein kinase receptor R3 sequence variant R411W (human) 
  Synonyms
PRO-Short-label: EXACT:hACVRL1/var:R411W
PRO-proteoform-std: EXACT:UniProtKB:P37023, Arg-411, CHEBI:29954
Other: EXACT:serine/threonine-protein kinase receptor R3 sequence variant 35 (human)
  Definition"A serine/threonine-protein kinase receptor R3 (human) that has a Trp residue at the position equivalent to Arg-411 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-411, CHEBI:29954." [PMID:11484689, PMID:15024723, PMID:15712270, 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_026809
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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000000345 hACVRL1/var:R411W
UniProtKB:P37023, Arg-411, CHEBI:29954 | serine/threonine-protein kinase receptor R3 sequence variant 35 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Trp residue at the position equivalent to Arg-411 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-411, CHEBI:29954." [PMID:11484689, PMID:15024723, PMID:15712270, PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:1270 hereditary hemorrhagic telangiectasia PMID:11484689; PMID:15024723; PMID:15712270