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Protein Ontology report - voltage-gated potassium channel subunit KCNQ2 sequence variant M208V (human)
PR:000000915 - http://purl.obolibrary.org/obo/PR_000000915
 
    Annotations      
Ontology Information Show OBO stanza / PAF / GPI
  PRO ID
PR:000000915   
  PRO namevoltage-gated potassium channel subunit KCNQ2 sequence variant M208V (human) 
  Synonyms
PRO-Short-label: EXACT:hKCNQ2/var:M208V
PRO-proteoform-std: EXACT:UniProtKB:O43526, Met-208, CHEBI:30015
NARROW:UniProtKB:O43526-1, Met-208, CHEBI:30015
Other: EXACT:voltage-gated potassium channel subunit KCNQ2 sequence variant 8 (human)
  Definition"A potassium voltage-gated channel subfamily KQT member 2 (human) that has a Val residue at the position equivalent to Met-208 of the amino acid sequence represented by UniProtKB:O43526-1. Example: UniProtKB:O43526-1, Met-208, CHEBI:30015." [PMID:14534157, PRO:CNA, PRO:DAN] 
  CommentNote: This mutation is located in the S4 transmembrane domain and causes minor effect on maximal current but clearly exhibits a faster rate of deactivation. 
  PRO Categoryorganism-sequence 
  ParentPR:O43526 potassium voltage-gated channel subfamily KQT member 2 (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
UniProtKB_VAR:VAR_026988
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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000000915 hKCNQ2/var:M208V
UniProtKB:O43526, Met-208, CHEBI:30015 | UniProtKB:O43526-1, Met-208, CHEBI:30015 | voltage-gated potassium channel subunit KCNQ2 sequence variant 8 (human)
"A potassium voltage-gated channel subfamily KQT member 2 (human) that has a Val residue at the position equivalent to Met-208 of the amino acid sequence represented by UniProtKB:O43526-1. Example: UniProtKB:O43526-1, Met-208, CHEBI:30015." [PMID:14534157, PRO:CNA, PRO:DAN]		 associated_with_disease_progressionDO:14264 benign neonatal seizures PMID:14534157