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Protein Ontology Report - hKCNQ4/var:L274H

PR:000000921 - http://purl.obolibrary.org/obo/PR_000000921
Ontology Information
PRO ID PR:000000921 Show OBO stanza / PAF
PRO name voltage-gated potassium channel subunit KCNQ4 sequence variant L274H (human)
Synonyms
PRO-short-label: hKCNQ4/var:L274H
EXACT: voltage-gated potassium channel subunit KCNQ4 sequence variant 2 (human)
PRO-proteoform-std: UniProtKB:P56696-1, Leu-274, CHEBI:29979
Definition A potassium voltage-gated channel subfamily KQT member 4 (human) that has a His residue at the position equivalent to Leu-274 of the amino acid sequence represented by UniProtKB:P56696-1. Example: UniProtKB:P56696-1, Leu-274, CHEBI:29979. [PMID:10925378, PRO:CNA, PRO:DAN]
Comment Note: This residue is located in the pore region located between segments S5 and S6.
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:000000921
hKCNQ4/var:L274H
Leu-274, CHEBI:29979
associated_with_disease_progression DOID:0050564 autosomal dominant nonsyndromic deafness PMID:10925378

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