WARS2 Chromosome 1
Tryptophanyl tRNA synthetase 2, mitochondrial
Upload your DNA to see your personal genotypes for variants in WARS2.
What This Gene Does
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. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. This gene encodes the mitochondrial tryptophanyl-tRNA synthetase. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class I
Locus Type
gene with protein product
Location
1p12
Ensembl
ENSG00000116874
Associated Conditions (8)
Inborn genetic diseases
Neurodevelopmental disorder
mitochondrial
with abnormal movements and lactic acidosis
with or without seizures
Parkinsonism-dystonia 3
childhood-onset
WARS2-related disorder
Key Variants
RS1296437426
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder, mitochondrial
Health Risk
RS139194636
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145843390
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147962776
Conflicting classifications of pathogenicity
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis
Health Risk
RS149657255
Conflicting classifications of pathogenicity
Inborn genetic diseases, WARS2-related disorder, Inborn genetic diseases
Health Risk
RS746478253
Conflicting classifications of pathogenicity
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis
Health Risk
RS772867219
Conflicting classifications of pathogenicity
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis
Health Risk
RS11552864
Likely pathogenic
Parkinsonism-dystonia 3, childhood-onset, Parkinsonism-dystonia 3
Health Risk
RS1571323203
Likely pathogenic
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis
Health Risk
RS1648733523
Likely pathogenic
Parkinsonism-dystonia 3, childhood-onset, Parkinsonism-dystonia 3
Health Risk
RS2101095108
Likely pathogenic
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis
Health Risk
RS745543661
Likely pathogenic
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1296437426 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neurodevelopmental disorder, mitochondrial |
| RS139194636 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS145843390 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147962776 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis |
| RS149657255 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, WARS2-related disorder, Inborn genetic diseases |
| RS746478253 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis |
| RS772867219 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis |
| RS11552864 | Health Risk | Likely pathogenic | Parkinsonism-dystonia 3, childhood-onset, Parkinsonism-dystonia 3 |
| RS1571323203 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis |
| RS1648733523 | Health Risk | Likely pathogenic | Parkinsonism-dystonia 3, childhood-onset, Parkinsonism-dystonia 3 |
| RS2101095108 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis |
| RS745543661 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis |
| RS754687998 | Health Risk | Likely pathogenic | — |
| RS757600616 | Health Risk | Likely pathogenic | WARS2-related disorder, Neurodevelopmental disorder, mitochondrial |
| RS765904496 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis |
| RS137890886 | Health Risk | Pathogenic | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis |
| RS1553241795 | Health Risk | Pathogenic | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis |
| RS2525266189 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS912133959 | Health Risk | Pathogenic | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis |
| RS145867327 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis |