Annotation Detail
Information
- Associated Genes
- CDSN
- Associated Variants
-
ADRB1 p.Gly389Arg (p.G389R)
(
ENST00000369295.4 )
ADRB1 p.Gly389Arg (p.G389R) ( ENST00000369295.4 ) - Associated Disease
- Mood Disorders
- Source Database
- DisGeNET
- Description
- A recently identified functional polymorphism in the beta(1)-adrenergic receptor (G1165C) leading to the amino acid variation Gly389Arg was associated with an enhanced coupling to the stimulatory G(s)-protein and increased adenylyl cyclase activation, disturbances which are often observed in affective disorders.
- Pubmed
- 12815745
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2003
Drugs