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NUDT5

Synonyms
YSA1, YSA1H, YSAH1, hNUDT5
External resources
Summary
This gene belongs to the Nudix (nucleoside diphosphate linked moiety X) hydrolase superfamily. The encoded enzyme catalyzes the hydrolysis of modified nucleoside diphosphates, including ADP-ribose (ADPR) and 8-oxoGua-containing 8-oxo-dADP and 8-oxo-dGDP. Protein-bound ADP ribose can be hazardous to the cell because it can modify some amino acid residues, resulting in the inhibition of ATP-activated potassium channels. 8-oxoGua is an oxidized form of guanine that can potentially alter genetic information by pairing with adenine and cytosine in RNA. Presence of 8-oxoGua in RNA results in formation of abnormal proteins due to translational errors.

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
13
Likely pathogenic
21
VUS
2,168
Likely benign
407
Benign
0

Patient phenotypes

Proportions of phenotypes among 34 patients carring pathogenic or likely pathogenic variants on NUDT5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
47.1%
Abnormality of the eye
26.5%
Abnormality of the musculoskeletal system
26.5%
Abnormality of head or neck
23.5%
Abnormality of the integument
17.6%
Abnormality of limbs
11.8%
Abnormality of the cardiovascular system
8.8%
Abnormality of the genitourinary system
8.8%
Growth abnormality
8.8%
Abnormality of blood and blood-forming tissues
5.9%
Abnormality of the ear
5.9%
Abnormality of prenatal development or birth
2.9%
Abnormality of the digestive system
2.9%
Abnormality of the immune system
2.9%
Abnormality of the respiratory system
2.9%
Constitutional symptom
2.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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