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Protein Ontology report - voltage-gated potassium channel subunit KCNQ1 sequence variant S349W (human)
PR:000000841 - http://purl.obolibrary.org/obo/PR_000000841
 
    Annotations      
Ontology Information Show OBO stanza / PAF / GPI
  PRO ID
PR:000000841   
  PRO namevoltage-gated potassium channel subunit KCNQ1 sequence variant S349W (human) 
  Synonyms
PRO-Short-label: EXACT:hKCNQ1/var:S349W
PRO-proteoform-std: EXACT:UniProtKB:P51787, Ser-349, CHEBI:29954
NARROW:UniProtKB:P51787-1, Ser-349, CHEBI:29954
Other: EXACT:voltage-gated potassium channel subunit KCNQ1 sequence variant 31 (human)
  Definition"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Trp residue at the position equivalent to Ser-349 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ser-349, CHEBI:29954." [PMID:10704188, PRO:CNA, PRO:DAN, UniProtKB:P51787
  PRO Categoryorganism-sequence 
  ParentPR:P51787 potassium voltage-gated channel subfamily KQT member 1 (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
UniProtKB_VAR:VAR_009928
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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000000841 hKCNQ1/var:S349W
Example: UniProtKB:P51787-1, Ser-349, CHEBI:29954
associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188