Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Ser140Gly (p.S140G)
(
ENST00000496887.7,
ENST00000155840.12,
ENST00000713725.1,
ENST00000646564.2,
ENST00000335475.6 )
KCNQ1 p.Ser140Gly (p.S140G) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 ) - Associated Disease
- long QT syndrome
- Source Database
- DisGeNET
- Description
- Functional analysis of the S140G mutant revealed a gain-of-function effect on the KCNQ1/KCNE1 and the KCNQ1/KCNE2 currents, which contrasts with the dominant negative or loss-of-function effects of the KCNQ1 mutations previously identified in patients with long QT syndrome.
- Pubmed
- 12522251
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.41651083741347
- Year of publication
- 2003
Drugs