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Protein Ontology report - voltage-gated potassium channel subunit KCNQ2 sequence variant H228Q (human)
PR:000000908 -
http://purl.obolibrary.org/obo/PR_000000908
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000000908
PRO name
voltage-gated potassium channel subunit KCNQ2 sequence variant H228Q (human)
Synonyms
PRO-Short-label
:
EXACT:
hKCNQ2/var:H228Q
PRO-proteoform-std
:
EXACT:
UniProtKB:O43526
, His-228,
CHEBI:30011
NARROW:
UniProtKB:O43526-1
, His-228,
CHEBI:30011
Other
:
EXACT:
voltage-gated potassium channel subunit KCNQ2 sequence variant 10 (human)
Definition
"A potassium voltage-gated channel subfamily KQT member 2 (human) that has a Gln residue at the position equivalent to His-228 of the amino acid sequence represented by
UniProtKB:O43526-1
. Example:
UniProtKB:O43526-1
, His-228,
CHEBI:30011
." [
PMID:14534157
, PRO:CNA, PRO:DAN]
Comment
Note: This residue is located in the intracellular loop between S4-S5.
PRO Category
organism-sequence
Parent
PR:O43526
potassium voltage-gated channel subfamily KQT member 2 (human)
Taxon
NCBITaxon:9606
Homo sapiens
Term Hierarchy
Visualization
DAG:
OLS:
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Related Cross References
Db identifiers
UniProtKB_VAR:VAR_026989
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Functional Annotation (PRO-centric view)
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GO Centric View
PRO Term
GO Annotation
Evidence
PR:000000908
hKCNQ2/var:H228Q
UniProtKB:O43526, His-228, CHEBI:30011 | UniProtKB:O43526-1, His-228, CHEBI:30011 | voltage-gated potassium channel subunit KCNQ2 sequence variant 10 (human)
"A potassium voltage-gated channel subfamily KQT member 2 (human) that has a Gln residue at the position equivalent to His-228 of the amino acid sequence represented by UniProtKB:O43526-1. Example: UniProtKB:O43526-1, His-228, CHEBI:30011." [PMID:14534157, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:14264
benign neonatal seizures
PMID:14534157
