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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

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
11
Likely pathogenic
126
VUS
5,376
Likely benign
1,960
Benign
90

Patient phenotypes

Proportions of phenotypes among 136 patients carring pathogenic or likely pathogenic variants on TARS1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.6%
Abnormality of the cardiovascular system
25.7%
Abnormality of the musculoskeletal system
25%
Abnormality of head or neck
24.3%
Abnormality of the eye
19.1%
Abnormality of the ear
14%
Growth abnormality
14%
Abnormality of the digestive system
10.3%
Abnormality of the genitourinary system
9.6%
Abnormality of limbs
8.8%
Abnormality of the integument
8.8%
Abnormality of the immune system
6.6%
Abnormality of blood and blood-forming tissues
5.1%
Abnormality of the endocrine system
3.7%
Abnormality of prenatal development or birth
2.9%
Abnormality of the respiratory system
2.2%
Constitutional symptom
0.7%
Neoplasm
0.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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