Annotation Detail
Information
- Associated Genes
- ADRB2
- Associated Variants
-
SLC6A2 p.Ala457Thr (p.A457T)
(
ENST00000567238.1,
ENST00000561820.5,
ENST00000568943.6,
ENST00000566163.5,
ENST00000219833.13,
ENST00000379906.6,
ENST00000414754.7 )
SLC6A2 p.Ala457Pro (p.A457P) ( ENST00000561820.5, ENST00000568943.6, ENST00000567238.1, ENST00000379906.6, ENST00000414754.7, ENST00000219833.13, ENST00000566163.5 )
SLC6A2 p.Ala457Ser (p.A457S) ( ENST00000567238.1, ENST00000568943.6, ENST00000561820.5, ENST00000219833.13, ENST00000566163.5, ENST00000379906.6, ENST00000414754.7 )
SLC6A2 p.Ala457Thr (p.A457T) ( ENST00000219833.13, ENST00000379906.6, ENST00000414754.7, ENST00000561820.5, ENST00000566163.5, ENST00000567238.1, ENST00000568943.6 )
SLC6A2 p.Ala457Pro (p.A457P) ( ENST00000219833.13, ENST00000379906.6, ENST00000414754.7, ENST00000561820.5, ENST00000566163.5, ENST00000567238.1, ENST00000568943.6 )
SLC6A2 p.Ala457Ser (p.A457S) ( ENST00000219833.13, ENST00000379906.6, ENST00000414754.7, ENST00000561820.5, ENST00000566163.5, ENST00000567238.1, ENST00000568943.6 ) - Associated Disease
- postural orthostatic tachycardia syndrome
- Source Database
- DisGeNET
- Description
- (a) DNA extraction from leukocytes of 29 patients with POTS; (b) Denaturing high performance liquid chromatography analysis to screen for the 12-bp deletion (Del322-325) in alpha(2C)AR and for the alanine to proline mutation at amino acid 457 (Ala457Pro) in NET; (c) Systematic direct sequence analysis to screen for SNPs in beta2AR, NET, and COI.
- Pubmed
- 15946904
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00536282409314951
- Year of publication
- 2005
Drugs