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NUDT1

Synonyms
MTH1
External resources
Summary
Misincorporation of oxidized nucleoside triphosphates into DNA/RNA during replication and transcription can cause mutations that may result in carcinogenesis or neurodegeneration. The protein encoded by this gene is an enzyme that hydrolyzes oxidized purine nucleoside triphosphates, such as 8-oxo-dGTP, 8-oxo-dATP, 2-hydroxy-dATP, and 2-hydroxy rATP, to monophosphates, thereby preventing misincorporation. The encoded protein is localized mainly in the cytoplasm, with some in the mitochondria, suggesting that it is involved in the sanitization of nucleotide pools both for nuclear and mitochondrial genomes. Several alternatively spliced transcript variants, some of which encode distinct isoforms, have been identified. Additional variants have been observed, but their full-length natures have not been determined. A rare single-nucleotide polymorphism that results in the production of an additional, longer isoform (p26) has been described.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
14
Likely pathogenic
851
VUS
3,365
Likely benign
53
Benign
0

Patient phenotypes

Proportions of phenotypes among 863 patients carring pathogenic or likely pathogenic variants on NUDT1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.7%
Abnormality of the cardiovascular system
22.8%
Abnormality of the musculoskeletal system
22.7%
Abnormality of head or neck
18.1%
Abnormality of the ear
16.2%
Growth abnormality
13.2%
Abnormality of the eye
10.2%
Abnormality of the genitourinary system
9.7%
Abnormality of blood and blood-forming tissues
6.7%
Abnormality of the integument
5.9%
Abnormality of limbs
5.2%
Abnormality of the digestive system
5.1%
Abnormality of the immune system
3.9%
Abnormality of prenatal development or birth
2.5%
Abnormality of the endocrine system
2.2%
Abnormality of the respiratory system
1.9%
Neoplasm
1.7%
Constitutional symptom
0.8%
Abnormality of the breast
0.7%
Abnormal cellular phenotype
0.1%
Abnormality of the voice
0.1%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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