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DARS2

Synonyms
ASPRS, LBSL, MT-ASPRS, mtAspRS
External resources
Summary
The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL).

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
17
Likely pathogenic
2
VUS
4,252
Likely benign
9,767
Benign
242

Patient Phenotypes

Proportions of phenotypes among 18 patients carrying pathogenic or likely pathogenic variants on DARS2 gene are displayed below. The following symptoms were found in patients with a variant in DARS2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the musculoskeletal system
38.9%
Abnormality of the eye
33.3%
Abnormality of head or neck
16.7%
Abnormality of limbs
16.7%
Abnormality of metabolism homeostasis
16.7%
Abnormality of blood and blood forming tissues
11.1%
Abnormality of prenatal development or birth
5.6%
Abnormality of the ear
5.6%
Abnormality of the endocrine system
5.6%
Abnormality of the genitourinary system
5.6%
Abnormality of the immune system
5.6%
Abnormality of the integument
5.6%
Abnormality of the respiratory system
5.6%
Constitutional symptom
5.6%
Growth abnormality
5.6%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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