Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNQ1 p.Thr587Met (p.T587M)
(
ENST00000526095.2,
ENST00000335475.6,
ENST00000155840.12,
ENST00000496887.7,
ENST00000646564.2,
ENST00000713725.1 )
KCNQ1 p.Thr587Met (p.T587M) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000526095.2, ENST00000646564.2, ENST00000713725.1 ) - Associated Disease
- long QT syndrome
- Source Database
- DisGeNET
- Description
- The trafficking-deficient LQTS mutation KCNQ1-T587M fails to show the chaperoning function that enhances KCNH2 membrane localization with KCNQ1-WT.
- Pubmed
- 19959132
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.38848280393755
- Year of publication
- 2009
Drugs