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Protein Ontology report - voltage-gated potassium channel subunit KCNQ1 sequence variant S140G (human)
PR:000000851 - http://purl.obolibrary.org/obo/PR_000000851
 
    Annotations      
Ontology Information Show OBO stanza / PAF / GPI
  PRO ID
PR:000000851   
  PRO namevoltage-gated potassium channel subunit KCNQ1 sequence variant S140G (human) 
  Synonyms
PRO-Short-label: EXACT:hKCNQ1/var:S140G
PRO-proteoform-std: EXACT:UniProtKB:P51787, Ser-140, CHEBI:29947
NARROW:UniProtKB:P51787-1, Ser-140, CHEBI:29947
Other: EXACT:voltage-gated potassium channel subunit KCNQ1 sequence variant 40 (human)
  Definition"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Gly residue at the position equivalent to Ser-140 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ser-140, CHEBI:29947." [PMID:12522251, PRO:CNA, PRO:DAN] 
  CommentNote: This residue is located in the segment S1. 
  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_015742
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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000000851 hKCNQ1/var:S140G
UniProtKB:P51787, Ser-140, CHEBI:29947 | UniProtKB:P51787-1, Ser-140, CHEBI:29947 | voltage-gated potassium channel subunit KCNQ1 sequence variant 40 (human)
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Gly residue at the position equivalent to Ser-140 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ser-140, CHEBI:29947." [PMID:12522251, PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:0050650 familial atrial fibrillation PMID:12522251
enablesincreased GO:0005267 potassium channel activity relative to PR:000002622 KCNQ1/iso:1/UnMod PMID:12522251
located_inSO:0001557 polypeptide_gain_of_function_variant PMID:12522251