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ART1

Synonyms
ART2, ARTC1, CD296, RT6
External resources
Summary
ADP-ribosyltransferase catalyzes the ADP-ribosylation of arginine residues in proteins. Mono-ADP-ribosylation is a posttranslational modification of proteins that is interfered with by a variety of bacterial toxins including cholera, pertussis, and heat-labile enterotoxins of E. coli. The amino acid sequence consists of predominantly hydrophobic N- and C-terminal regions, which is characteristic of glycosylphosphatidylinositol (GPI)-anchored proteins. This gene was previously designated ART2.

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
18
Likely pathogenic
0
VUS
3,161
Likely benign
1,651
Benign
0

Patient phenotypes

Proportions of phenotypes among 18 patients carring pathogenic or likely pathogenic variants on ART1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
38.9%
Abnormality of head or neck
33.3%
Abnormality of the nervous system
27.8%
Abnormality of the genitourinary system
22.2%
Neoplasm
16.7%
Abnormality of the immune system
11.1%
Abnormality of the integument
11.1%
Abnormality of the musculoskeletal system
11.1%
Abnormality of the respiratory system
11.1%
Abnormality of blood and blood-forming tissues
5.6%
Abnormality of the breast
5.6%
Abnormality of the cardiovascular system
5.6%
Abnormality of the digestive system
5.6%
Abnormality of the ear
5.6%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%

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