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Protein Ontology Report - hKCNQ1/var:V307L

PR:000000870 - http://purl.obolibrary.org/obo/PR_000000870
Ontology Information
PRO ID PR:000000870 Show OBO stanza / PAF
PRO name voltage-gated potassium channel subunit KCNQ1 sequence variant V307L (human)
Synonyms
PRO-short-label: hKCNQ1/var:V307L
EXACT: voltage-gated potassium channel subunit KCNQ1 sequence variant 58 (human)
PRO-proteoform-std: UniProtKB:P51787-1, Val-307, CHEBI:30006
Definition A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Leu residue at the position equivalent to Val-307 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Val-307, CHEBI:30006. [PMID:15159330, PRO:CNA, PRO:DAN]
Comment Note: This residue is located in the pore region between segments S5 and 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:000000870
hKCNQ1/var:V307L
Val-307, CHEBI:30006
associated_with_disease_progression DOID:0050793 short QT syndrome PMID:15159330
capable_of GO:0005267 potassium channel activity increased relative to PR:000002622 KCNQ1/iso:1/UnMod PMID:15159330
has_agent SO:0001557 polypeptide_gain_of_function_variant PMID:15159330

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