CHROMOSOME 1 GNAI3 1p13.3 GENE VIEW GNAI3 · 1p13.3 1p14 1p12 rs387907178 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs387907178 Glycine 40 → Serine G / A · GNAI3 · 1p13.3 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A G Guanine — reference allele A Adenine — variant allele genetics.jdge.cc

rs387907178

Glycine 40 → Serine Gene: GNAI3 — G Protein Subunit Alpha I3 Chr 1:109548838 1p13.3 Missense Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies0

No frequency data stored yet.

Studies1

Unread Studies1
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People use prescribed drugs all the time and there are different responses to a particular drug shown by different individuals. These responses largely have to do with single nucleotide polymorphisms. Aspirin is a salicylate drug often used as an analgesic, antipyretic, anti-inflammatory medication. It also has an anti-platelet effect by inhibiting the production of thromboxane. Approximately 40, 000 tones of this drug is being consumed every year. However, there are individual variations in response to aspirin, creating the term “aspirin nonresponsiveness” or “aspirin resistance”. Aspirin and its interaction with platelet aggregation inhibitor pathway genes (forty nine genes involved) were studied to hit upon the gene mutations, which gave rise to different responses to the same drug. Twelve of these exon mutations changed the originally coded amino acid with a new one (PTGDR, ITGB3, P2RY12, PLA2G4A, PLA2G4B, VWF, PTGS1, TBXAS1, TBX2R2, F2, F2RL3, and GNA13). These polymorphisms lie in the extracellular, cytoplasmic, signal sequence and transmembrane domains of the protein, α-helical regions and β-pleated sheets. These are significant pertaining to the transformation in polarity and charge of the amino acid side chains that in turn modify their interactions with other amino acid residues and aqueous surroundings. This alters the normal functioning of the genes and finally leads to differential responses to the drug aspirin.
Curated Studies0

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Unused Studies0

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