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Protein Ontology report - voltage-gated potassium channel subunit KCNQ4 sequence variant G285C (human)
PR:000000920 - http://purl.obolibrary.org/obo/PR_000000920
 
    Annotations      
Ontology Information Show OBO stanza / PAF / GPI
  PRO ID
PR:000000920   
  PRO namevoltage-gated potassium channel subunit KCNQ4 sequence variant G285C (human) 
  Synonyms
PRO-Short-label: EXACT:hKCNQ4/var:G285C
PRO-proteoform-std: EXACT:UniProtKB:P56696, Gly-285, CHEBI:29950
NARROW:UniProtKB:P56696-1, Gly-285, CHEBI:29950
Other: EXACT:voltage-gated potassium channel subunit KCNQ4 sequence variant 1 (human)
  Definition"A potassium voltage-gated channel subfamily KQT member 4 (human) that has a Cys residue at the position equivalent to Gly-285 of the amino acid sequence represented by UniProtKB:P56696-1. This variation is at the first Gly in the conserved selectivity filter sequence GYGD within the pore region. Example: UniProtKB:P56696-1, Gly-285, CHEBI:29950." [PMID:10369879, PRO:CNA, PRO:DAN] 
  PRO Categoryorganism-sequence 
  ParentPR:P56696 potassium voltage-gated channel subfamily KQT member 4 (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
UniProtKB_VAR:VAR_008727
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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000000920 hKCNQ4/var:G285C
UniProtKB:P56696, Gly-285, CHEBI:29950 | UniProtKB:P56696-1, Gly-285, CHEBI:29950 | voltage-gated potassium channel subunit KCNQ4 sequence variant 1 (human)
"A potassium voltage-gated channel subfamily KQT member 4 (human) that has a Cys residue at the position equivalent to Gly-285 of the amino acid sequence represented by UniProtKB:P56696-1. This variation is at the first Gly in the conserved selectivity filter sequence GYGD within the pore region. Example: UniProtKB:P56696-1, Gly-285, CHEBI:29950." [PMID:10369879, PRO:CNA, PRO:DAN]		 associated_with_disease_progressionDO:0050564 autosomal dominant nonsyndromic deafness PMID:10369879
enablesaltered GO:0005249 voltage-gated potassium channel activity relative to PR:000000918 KCNQ4/iso:1 PMID:10369879