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SULT1A1

Synonyms
HAST1/HAST2, P-PST, P-PST 1, PST, ST1A1, ST1A3, STP, STP1, TSPST1, ts-PST
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. Multiple alternatively spliced variants that encode two isoforms have been identified for this gene.

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
35
Likely pathogenic
1,021
VUS
24,081
Likely benign
2,325
Benign
0

Patient phenotypes

Proportions of phenotypes among 1054 patients carring pathogenic or likely pathogenic variants on SULT1A1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.3%
Abnormality of the musculoskeletal system
24.6%
Abnormality of the cardiovascular system
21.3%
Abnormality of head or neck
19.9%
Abnormality of the eye
16.9%
Abnormality of the ear
14.1%
Growth abnormality
13.7%
Abnormality of the genitourinary system
9.8%
Abnormality of limbs
8.1%
Abnormality of the integument
7.3%
Abnormality of the digestive system
7%
Abnormality of the immune system
5%
Abnormality of blood and blood-forming tissues
4.9%
Abnormality of the endocrine system
4.3%
Abnormality of prenatal development or birth
3.2%
Abnormality of the respiratory system
2.5%
Neoplasm
2.2%
Abnormality of the breast
0.5%
Constitutional symptom
0.5%
Abnormal cellular phenotype
0.2%
Abnormality of the voice
0.2%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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