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Protein Ontology report - voltage-gated potassium channel subunit KCNQ4 sequence variant W276S (human)
PR:000000924 -
http://purl.obolibrary.org/obo/PR_000000924
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000000924
PRO name
voltage-gated potassium channel subunit KCNQ4 sequence variant W276S (human)
Synonyms
PRO-Short-label
:
EXACT:
hKCNQ4/var:W276S
PRO-proteoform-std
:
EXACT:
UniProtKB:P56696
, Trp-276,
CHEBI:29999
NARROW:
UniProtKB:P56696-1
, Trp-276,
CHEBI:29999
Other
:
EXACT:
voltage-gated potassium channel subunit KCNQ4 sequence variant 5 (human)
Definition
"A potassium voltage-gated channel subfamily KQT member 4 (human) that has a Ser residue at the position equivalent to Trp-276 of the amino acid sequence represented by
UniProtKB:P56696-1
. Example:
UniProtKB:P56696-1
, Trp-276,
CHEBI:29999
." [
PMID:10369879
, PRO:CNA, PRO:DAN]
Comment
Note: This residue is located in the pore region located between segments S5 and S6.
PRO Category
organism-sequence
Parent
PR:P56696
potassium voltage-gated channel subfamily KQT member 4 (human)
Taxon
NCBITaxon:9606
Homo sapiens
Term Hierarchy
Visualization
DAG:
OLS:
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Related Cross References
Db identifiers
UniProtKB_VAR:VAR_008726
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Functional Annotation (PRO-centric view)
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GO Centric View
PRO Term
GO Annotation
Evidence
PR:000000924
hKCNQ4/var:W276S
UniProtKB:P56696, Trp-276, CHEBI:29999 | UniProtKB:P56696-1, Trp-276, CHEBI:29999 | voltage-gated potassium channel subunit KCNQ4 sequence variant 5 (human)
"A potassium voltage-gated channel subfamily KQT member 4 (human) that has a Ser residue at the position equivalent to Trp-276 of the amino acid sequence represented by UniProtKB:P56696-1. Example: UniProtKB:P56696-1, Trp-276, CHEBI:29999." [PMID:10369879, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:0050564
autosomal dominant nonsyndromic deafness
PMID:10369879