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TDG

Synonyms
hTDG
External resources
Summary
The protein encoded by this gene belongs to the TDG/mug DNA glycosylase family. Thymine-DNA glycosylase (TDG) removes thymine moieties from G/T mismatches by hydrolyzing the carbon-nitrogen bond between the sugar-phosphate backbone of DNA and the mispaired thymine. With lower activity, this enzyme also removes thymine from C/T and T/T mispairings. TDG can also remove uracil and 5-bromouracil from mispairings with guanine. This enzyme plays a central role in cellular defense against genetic mutation caused by the spontaneous deamination of 5-methylcytosine and cytosine. This gene may have a pseudogene in the p arm of chromosome 12.

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
4,051
Likely pathogenic
7,042
VUS
14,781
Likely benign
563
Benign
0

Patient phenotypes

Proportions of phenotypes among 6414 patients carring pathogenic or likely pathogenic variants on TDG gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.8%
Abnormality of the musculoskeletal system
29.1%
Abnormality of the eye
24.2%
Abnormality of head or neck
23%
Abnormality of the cardiovascular system
18.9%
Abnormality of the ear
15.9%
Growth abnormality
13.3%
Abnormality of the integument
10.6%
Abnormality of limbs
9.9%
Abnormality of the genitourinary system
9.6%
Abnormality of the digestive system
7.2%
Abnormality of the immune system
6%
Abnormality of blood and blood-forming tissues
4.6%
Abnormality of the endocrine system
3.8%
Abnormality of the respiratory system
3.5%
Abnormality of prenatal development or birth
2.9%
Neoplasm
2.7%
Constitutional symptom
1.1%
Abnormality of the breast
0.7%
Abnormal cellular phenotype
0.5%
Abnormality of the voice
0.5%
Abnormality of the thoracic cavity
0%
Abnormality of metabolism homeostasis
0%

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