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SULT1A2

Synonyms
HAST4, P-PST, P-PST 2, ST1A2, STP2, TSPST2
External resources
Summary
Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes one of two phenol sulfotransferases with thermostable enzyme activity. Two alternatively spliced variants that encode the same protein have 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
48
Likely pathogenic
244
VUS
2,174
Likely benign
684
Benign
0

Patient phenotypes

Proportions of phenotypes among 287 patients carring pathogenic or likely pathogenic variants on SULT1A2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.3%
Abnormality of the musculoskeletal system
25.4%
Abnormality of the cardiovascular system
19.9%
Abnormality of the ear
17.1%
Abnormality of head or neck
16.7%
Abnormality of the eye
12.5%
Abnormality of the genitourinary system
11.1%
Growth abnormality
10.5%
Abnormality of the digestive system
7.3%
Abnormality of limbs
5.9%
Abnormality of the integument
5.6%
Abnormality of the immune system
4.9%
Abnormality of blood and blood-forming tissues
3.5%
Abnormality of prenatal development or birth
3.5%
Abnormality of the endocrine system
2.8%
Abnormality of the respiratory system
2.1%
Constitutional symptom
1.7%
Neoplasm
1.7%
Abnormal cellular phenotype
0.3%
Abnormality of the voice
0.3%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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