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Protein Ontology Report - hKCNQ4/var:G285C

PR:000000920 - http://purl.obolibrary.org/obo/PR_000000920
Ontology Information
PRO ID PR:000000920 Show OBO stanza / PAF
PRO name voltage-gated potassium channel subunit KCNQ4 sequence variant G285C (human)
Synonyms
PRO-short-label: hKCNQ4/var:G285C
EXACT: voltage-gated potassium channel subunit KCNQ4 sequence variant 1 (human)
PRO-proteoform-std: UniProtKB:P56696-1, Gly-285, CHEBI:29950
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 Category organism-sequence
Parent PR:P56696 potassium voltage-gated channel subfamily KQT member 4 (human)
Term Hierarchy Visualization DAG     OLS     Cytoscape


Interactive Sequence View Select/align proteoforms across species

Protein Forms
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation
PRO Term GO Annotation Evidence
PR:000000920
hKCNQ4/var:G285C
Gly-285, CHEBI:29950
associated_with_disease_progression DOID:0050564 autosomal dominant nonsyndromic deafness PMID:10369879
capable_of GO:0005249 voltage-gated potassium channel activity PMID:10369879

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