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Protein Ontology Report - hKCNQ1/var:R243H

PR:000000872 - http://purl.obolibrary.org/obo/PR_000000872
Ontology Information
PRO ID PR:000000872 Show OBO stanza / PAF
PRO name voltage-gated potassium channel subunit KCNQ1 sequence variant R243H (human)
Synonyms
PRO-short-label: hKCNQ1/var:R243H
EXACT: voltage-gated potassium channel subunit KCNQ1 sequence variant 6 (human)
PRO-proteoform-std: UniProtKB:P51787-1, Arg-243, CHEBI:29979
Definition A potassium voltage-gated channel subfamily KQT member 1 (human) that has a His residue at the position equivalent to Arg-243 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-243, CHEBI:29979. [PMID:10728423, PRO:CNA, PRO:DAN]
Comment Note: This residue is located in segment S4.
PRO Category organism-sequence
Parent PR:P51787 potassium voltage-gated channel subfamily KQT member 1 (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:000000872
hKCNQ1/var:R243H
Arg-243, CHEBI:29979
associated_with_disease_progression DOID:2842 Jervell-Lange Nielsen syndrome PMID:10728423
capable_of GO:0005251 delayed rectifier potassium channel activity PMID:10728423
part_of GO:0008076 voltage-gated potassium channel complex PMID:10728423

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