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TARS1

Synonyms
TARS, TTD7, ThrRS
External resources
Summary
Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Threonyl-tRNA synthetase belongs to the class-II aminoacyl-tRNA synthetase family

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
25
Likely pathogenic
187
VUS
9,961
Likely benign
2,509
Benign
109

Patient phenotypes

Proportions of phenotypes among 209 patients carrying pathogenic or likely pathogenic variants on TARS1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44%
Abnormality of the cardiovascular system
32.5%
Abnormality of the musculoskeletal system
25.8%
Abnormality of head or neck
23%
Abnormality of the eye
16.7%
Abnormality of the ear
13.9%
Growth abnormality
12.9%
Abnormality of limbs
10.5%
Abnormality of the digestive system
10.5%
Abnormality of the integument
9.1%
Abnormality of the genitourinary system
8.6%
Abnormality of the immune system
5.7%
Abnormality of blood and blood-forming tissues
4.8%
Abnormality of the respiratory system
4.8%
Abnormality of prenatal development or birth
4.3%
Abnormality of the endocrine system
4.3%
Abnormality of the voice
1%
Neoplasm
1%
Abnormal cellular phenotype
0.5%
Abnormality of the breast
0.5%
Constitutional symptom
0.5%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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