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Protein Ontology Report - hKCNQ1/var:F339del

PR:000000871 - http://purl.obolibrary.org/obo/PR_000000871
Ontology Information
PRO ID PR:000000871 Show OBO stanza / PAF
PRO name voltage-gated potassium channel subunit KCNQ1 sequence variant F339del (human)
Synonyms
PRO-short-label: hKCNQ1/var:F339del
EXACT: voltage-gated potassium channel subunit KCNQ1 sequence variant 59 (human)
PRO-proteoform-std: UniProtKB:P49747-1, 21-338, 340-757
RELATED: deltaF339
Definition A potassium voltage-gated channel subfamily KQT member 1 (human) that has a single-residue deletion at the position equivalent to Phe-339 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P49747-1, 21-338, 340-757. [PMID:9702906, PRO:CNA, PRO:DAN]
Comment Note: This residue is located within segment S6.
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:000000871
hKCNQ1/var:F339del
associated_with_disease_progression DOID:2843 long QT syndrome PMID:15159330

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