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Protein Ontology Report - hKCNQ1/var:L250H

PR:000000840 - http://purl.obolibrary.org/obo/PR_000000840
Ontology Information
PRO ID PR:000000840 Show OBO stanza / PAF
PRO name voltage-gated potassium channel subunit KCNQ1 sequence variant L250H (human)
Synonyms
PRO-short-label: hKCNQ1/var:L250H
EXACT: voltage-gated potassium channel subunit KCNQ1 sequence variant 30 (human)
PRO-proteoform-std: UniProtKB:P51787-1, Leu-250, CHEBI:29979
Definition A potassium voltage-gated channel subfamily KQT member 1 (human) that has a His residue at the position equivalent to Leu-250 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Leu-250, CHEBI:29979. [PMID:10704188, PRO:CNA, PRO:DAN, UniProtKB:P51787]
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:000000840
hKCNQ1/var:L250H
Leu-250, CHEBI:29979
associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188

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