PARS2 Chromosome 1
Prolyl-tRNA synthetase 2, mitochondrial
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What This Gene Does
This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of proline to tRNA molecules. Mutations have been found in this gene in some patients with Alpers syndrome. [provided by RefSeq, Mar 2015]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class II
Locus Type
gene with protein product
Location
1p32.3
Ensembl
ENSG00000162396
Associated Conditions (4)
PARS2-related disorder
Developmental and epileptic encephalopathy
75
Inborn genetic diseases
Key Variants
RS147227819
Conflicting classifications of pathogenicity
PARS2-related disorder, Developmental and epileptic encephalopathy, 75
Health Risk
RS192469262
Conflicting classifications of pathogenicity
Inborn genetic diseases, PARS2-related disorder, Developmental and epileptic encephalopathy
Health Risk
RS35201073
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 75, Inborn genetic diseases
Health Risk
RS730882153
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 75, Inborn genetic diseases
Health Risk
RS751997497
Conflicting classifications of pathogenicity
Health Risk
RS1000886583
Likely pathogenic
Health Risk
RS1553183771
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2524474470
Likely pathogenic
Developmental and epileptic encephalopathy, 75, Developmental and epileptic encephalopathy
Health Risk
RS730882152
Pathogenic
Developmental and epileptic encephalopathy, 75, Developmental and epileptic encephalopathy
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147227819 | Health Risk | Conflicting classifications of pathogenicity | PARS2-related disorder, Developmental and epileptic encephalopathy, 75 |
| RS192469262 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, PARS2-related disorder, Developmental and epileptic encephalopathy |
| RS35201073 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 75, Inborn genetic diseases |
| RS730882153 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 75, Inborn genetic diseases |
| RS751997497 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1000886583 | Health Risk | Likely pathogenic | — |
| RS1553183771 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2524474470 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 75, Developmental and epileptic encephalopathy |
| RS730882152 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 75, Developmental and epileptic encephalopathy |