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Protein Ontology Report - hKCNQ1/var:D317N

PR:000000820 - http://purl.obolibrary.org/obo/PR_000000820
Ontology Information
PRO ID PR:000000820 Show OBO stanza / PAF
PRO name voltage-gated potassium channel subunit KCNQ1 sequence variant D317N (human)
Synonyms
PRO-short-label: hKCNQ1/var:D317N
EXACT: voltage-gated potassium channel subunit KCNQ1 sequence variant 12 (human)
PRO-proteoform-std: UniProtKB:P51787-1, Asp-317, CHEBI:50347
Definition A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Asn residue at the position equivalent to Asp-317 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Asp-317, CHEBI:50347. [PMID:9302275, PRO:CNA, PRO:DAN]
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:000000820
hKCNQ1/var:D317N
Asp-317, CHEBI:50347
associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188, PMID:9302275, PMID:9482580

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