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Protein Ontology report - voltage-gated potassium channel subunit KCNQ2 sequence variant A306T (human)

PR:000000913 - http://purl.obolibrary.org/obo/PR_000000913

Annotations

Ontology Information

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PAF

GPI

PRO ID

PR:000000913

PRO name

voltage-gated potassium channel subunit KCNQ2 sequence variant A306T (human)

Synonyms

PRO-Short-label:	EXACT:	hKCNQ2/var:A306T
PRO-proteoform-std:	EXACT:	UniProtKB:O43526, Ala-306, CHEBI:30013
	NARROW:	UniProtKB:O43526-1, Ala-306, CHEBI:30013
Other:	EXACT:	voltage-gated potassium channel subunit KCNQ2 sequence variant 6 (human)

Definition

"A potassium voltage-gated channel subfamily KQT member 2 (human) that has a Thr residue at the position equivalent to Ala-306 of the amino acid sequence represented by UniProtKB:O43526-1. Example: UniProtKB:O43526-1, Ala-306, CHEBI:30013." [PMID:10788442, PRO:CNA, PRO:DAN]

Comment

Note: This mutation is located in transmembrane domain S6 and causes a reduction of wild type heteromeric currents.

PRO Category

organism-sequence

Parent

PR:O43526 potassium voltage-gated channel subfamily KQT member 2 (human)

Taxon

NCBITaxon:9606 Homo sapiens

Term Hierarchy
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Related Cross References
Db identifiers	UniProtKB_VAR:VAR_010931

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Functional Annotation (PRO-centric view)

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PRO Term	GO Annotation		Evidence
PR:000000913 hKCNQ2/var:A306T UniProtKB:O43526, Ala-306, CHEBI:30013 \| UniProtKB:O43526-1, Ala-306, CHEBI:30013 \| voltage-gated potassium channel subunit KCNQ2 sequence variant 6 (human) "A potassium voltage-gated channel subfamily KQT member 2 (human) that has a Thr residue at the position equivalent to Ala-306 of the amino acid sequence represented by UniProtKB:O43526-1. Example: UniProtKB:O43526-1, Ala-306, CHEBI:30013." [PMID:10788442, PRO:CNA, PRO:DAN]	associated_with_disease_progression	DO:14264 benign neonatal seizures	PMID:10788442
	located_in	GO:0009986 cell surface	PMID:10788442