Home
|
Linked Open Data
|
Browse
|
Search
|
Statistics
|
Download
RACE-PRO
PRO tracker
Community
PRO Consortium
Publications
Documentation
Protein Ontology report - voltage-gated potassium channel subunit KCNQ1 sequence variant F339del (human)
PR:000000871 -
http://purl.obolibrary.org/obo/PR_000000871
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000000871
PRO name
voltage-gated potassium channel subunit KCNQ1 sequence variant F339del (human)
Synonyms
PRO-Short-label
:
EXACT:
hKCNQ1/var:F339del
PRO-proteoform-std
:
EXACT:
UniProtKB:P49747
, 21-338, 340-757
NARROW:
UniProtKB:P49747-1
, 21-338, 340-757
Other
:
EXACT:
voltage-gated potassium channel subunit KCNQ1 sequence variant 59 (human)
RELATED:
deltaF339
Definition
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a single-residue deletion at the position equivalent to Phe-339 of the amino acid sequence represented by
UniProtKB:P51787-1
. Example:
UniProtKB:P49747-1
, 21-338, 340-757." [
PMID:9702906
, PRO:CNA, PRO:DAN]
Comment
Note: This residue is located within segment S6.
PRO Category
organism-sequence
Parent
PR:P51787
potassium voltage-gated channel subfamily KQT member 1 (human)
Taxon
NCBITaxon:9606
Homo sapiens
Term Hierarchy
Visualization
DAG:
OLS:
Back to top
Related Cross References
Db identifiers
UniProtKB_VAR:VAR_001537
Back to top
Functional Annotation (PRO-centric view)
Switch to
GO Centric View
PRO Term
GO Annotation
Evidence
PR:000000871
hKCNQ1/var:F339del
UniProtKB:P49747, 21-338, 340-757 | UniProtKB:P49747-1, 21-338, 340-757 | voltage-gated potassium channel subunit KCNQ1 sequence variant 59 (human) | deltaF339
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a single-residue deletion at the position equivalent to Phe-339 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P49747-1, 21-338, 340-757." [PMID:9702906, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:15159330
