rs2229125
This is a protein-altering variant in the ADRA1A gene.
▶Research that mentions this SNP (1)
▶Novel human α1a-adrenoceptor single nucleotide polymorphisms alter receptor pharmacology and biological functionFunctionalN=281Beilei Lei et al.(2005)· Naunyn-Schmiedeberg's Archives of Pharmacology
This functional study identified nine naturally-occurring human single nucleotide polymorphisms (SNPs) in the α1a-adrenoceptor (ADRA1A) coding region by resequencing 281 individuals from multiple ethnic populations. Seven SNPs resulted in amino acid changes. Using stably transfected rat-1 fibroblasts, the authors demonstrated that four SNPs (R166K, V311I, I200S, and G247R) alter receptor pharmacology and/or biological function: R166K and V311I reduce agonist binding affinity and potency, V311I and I200S alter antagonist binding, and G247R displays increased maximal IP activity with enhanced receptor-G protein coupling (2.1-fold increase in GTPγS binding).
About ADRA1A
Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1A-adrenergic receptor. Alternative splicing of this gene generates four transcript variants, which encode four different isoforms with distinct C-termini but having similar ligand binding properties. [provided by RefSeq, Jul 2008]
View all ADRA1A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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