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Protein Ontology Report - hKCNQ1/var:W248R

PR:000000863 - http://purl.obolibrary.org/obo/PR_000000863
Ontology Information
PRO ID PR:000000863 Show OBO stanza / PAF
PRO name voltage-gated potassium channel subunit KCNQ1 sequence variant W248R (human)
Synonyms
PRO-short-label: hKCNQ1/var:W248R
EXACT: voltage-gated potassium channel subunit KCNQ1 sequence variant 51 (human)
PRO-proteoform-std: UniProtKB:P51787-1, Trp-248, CHEBI:29952
Definition A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Arg residue at the position equivalent to Trp-248 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Trp-248, CHEBI:29952. [PMID:10409658, PRO:CNA, PRO:DAN]
Comment Note: This residue is located within segment S4. This amino acid change affects the interaction with other channel subunits.
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:000000863
hKCNQ1/var:W248R
Trp-248, CHEBI:29952
associated_with_disease_progression DOID:2843 long QT syndrome PMID:10409658
capable_of GO:0005251 delayed rectifier potassium channel activity PMID:10409658
has_agent SO:0001561 polypeptide_partial_loss_of_function PMID:10409658
part_of GO:0008076 voltage-gated potassium channel complex PMID:10728423

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