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IARS1

Synonyms
GRIDHH, IARS, ILERS, ILRS, IRS, PRO0785
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. Isoleucine-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family and has been identified as a target of autoantibodies in the autoimmune disease polymyositis/dermatomyositis. Alternatively spliced transcript variants have been found.

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
10
Likely pathogenic
0
VUS
3,124
Likely benign
9,735
Benign
0

Patient Phenotypes

Proportions of phenotypes among 10 patients carrying pathogenic or likely pathogenic variants on IARS1 gene are displayed below. The following symptoms were found in patients with a variant in IARS1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40%
Abnormality of the musculoskeletal system
30%
Abnormality of blood and blood forming tissues
10%
Abnormality of head or neck
10%
Abnormality of the cardiovascular system
10%
Abnormality of the digestive system
10%
Abnormality of the ear
10%
Abnormality of the eye
10%
Abnormality of the genitourinary system
10%
Abnormality of the integument
10%
Abnormality of the voice
10%
Growth abnormality
10%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%
Neoplasm
0%

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