Annotation Detail
Information
- Associated Genes
- ADRB1
- Associated Variants
-
ADRB1 p.Gly389Arg (p.G389R)
(
ENST00000369295.4 )
ADRB1 p.Gly389Arg (p.G389R) ( ENST00000369295.4 ) - Associated Disease
- Cardiomyopathy, Dilated
- Source Database
- DisGeNET
- Description
- In vitro, the Gly389 variant of beta1-AR mediates less adenylyl cyclase activities than the Arg389 variant, so Arg389Gly polymorphism was investigated with regard to the genesis, progression, or arrhythmogenesis of dilated cardiomyopathy (DCM).
- Pubmed
- 12197595
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.226370925810098
- Year of publication
- 2002
Drugs