GNAT1 Chromosome 3
G protein subunit alpha transducin 1
Upload your DNA to see your personal genotypes for variants in GNAT1.
What This Gene Does
Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in rods. This gene is also expressed in other cells, and has been implicated in bitter taste transduction in rat taste cells. Mutations in this gene result in autosomal dominant congenital stationary night blindness. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009]
Gene Info
Gene Group
G protein subunits alpha, group i
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000114349
Associated Conditions (6)
Congenital stationary night blindness autosomal dominant 3
Inborn genetic diseases
GNAT1-related disorder
Congenital stationary night blindness 1G
Retinitis pigmentosa
Retinal dystrophy
Key Variants
RS149936603
Conflicting classifications of pathogenicity
Congenital stationary night blindness autosomal dominant 3, Congenital stationary night blindness autosomal dominant 3
Health Risk
RS1699440055
Conflicting classifications of pathogenicity
Congenital stationary night blindness autosomal dominant 3, Congenital stationary night blindness autosomal dominant 3
Health Risk
RS201849628
Conflicting classifications of pathogenicity
Congenital stationary night blindness autosomal dominant 3, Inborn genetic diseases, Congenital stationary night blindness autosomal dominant 3
Health Risk
RS775329814
Conflicting classifications of pathogenicity
Congenital stationary night blindness autosomal dominant 3, GNAT1-related disorder, Congenital stationary night blindness autosomal dominant 3
Health Risk
RS776566245
Conflicting classifications of pathogenicity
Congenital stationary night blindness autosomal dominant 3, Congenital stationary night blindness autosomal dominant 3
Health Risk
RS778497200
Conflicting classifications of pathogenicity
Congenital stationary night blindness autosomal dominant 3, Congenital stationary night blindness 1G, Congenital stationary night blindness autosomal dominant 3
Health Risk
RS1460825110
Likely pathogenic
Health Risk
RS2109139201
Likely pathogenic
Health Risk
RS774214573
Likely pathogenic
Health Risk
RS104893740
Pathogenic
Congenital stationary night blindness autosomal dominant 3, Congenital stationary night blindness autosomal dominant 3
Health Risk
RS1293620319
Pathogenic
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS1440003996
Pathogenic
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149936603 | Health Risk | Conflicting classifications of pathogenicity | Congenital stationary night blindness autosomal dominant 3, Congenital stationary night blindness autosomal dominant 3 |
| RS1699440055 | Health Risk | Conflicting classifications of pathogenicity | Congenital stationary night blindness autosomal dominant 3, Congenital stationary night blindness autosomal dominant 3 |
| RS201849628 | Health Risk | Conflicting classifications of pathogenicity | Congenital stationary night blindness autosomal dominant 3, Inborn genetic diseases, Congenital stationary night blindness autosomal dominant 3 |
| RS775329814 | Health Risk | Conflicting classifications of pathogenicity | Congenital stationary night blindness autosomal dominant 3, GNAT1-related disorder, Congenital stationary night blindness autosomal dominant 3 |
| RS776566245 | Health Risk | Conflicting classifications of pathogenicity | Congenital stationary night blindness autosomal dominant 3, Congenital stationary night blindness autosomal dominant 3 |
| RS778497200 | Health Risk | Conflicting classifications of pathogenicity | Congenital stationary night blindness autosomal dominant 3, Congenital stationary night blindness 1G, Congenital stationary night blindness autosomal dominant 3 |
| RS1460825110 | Health Risk | Likely pathogenic | — |
| RS2109139201 | Health Risk | Likely pathogenic | — |
| RS774214573 | Health Risk | Likely pathogenic | — |
| RS104893740 | Health Risk | Pathogenic | Congenital stationary night blindness autosomal dominant 3, Congenital stationary night blindness autosomal dominant 3 |
| RS1293620319 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1440003996 | Health Risk | Pathogenic | — |
| RS1575415957 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS190126440 | Health Risk | Pathogenic | — |
| RS2109138350 | Health Risk | Pathogenic | — |
| RS2109138520 | Health Risk | Pathogenic | — |
| RS534226069 | Health Risk | Pathogenic | — |
| RS571471319 | Health Risk | Pathogenic | — |
| RS753761683 | Health Risk | Pathogenic | — |
| RS762489106 | Health Risk | Pathogenic | — |
| RS769750483 | Health Risk | Pathogenic | — |
| RS786205853 | Health Risk | Pathogenic | Congenital stationary night blindness autosomal dominant 3, Congenital stationary night blindness autosomal dominant 3 |
| RS786205854 | Health Risk | Pathogenic | Congenital stationary night blindness 1G, Congenital stationary night blindness 1G |
| RS143481438 | Health Risk | Pathogenic/Likely pathogenic | Congenital stationary night blindness autosomal dominant 3, Congenital stationary night blindness 1G, Congenital stationary night blindness autosomal dominant 3 |
| RS1559746225 | Health Risk | Pathogenic/Likely pathogenic | Congenital stationary night blindness 1G, Congenital stationary night blindness 1G |
| RS374913800 | Health Risk | Pathogenic/Likely pathogenic | Congenital stationary night blindness 1G, Congenital stationary night blindness 1G |
| RS778059585 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |