WARS1 Chromosome 14
Tryptophanyl-tRNA synthetase 1
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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. Tryptophanyl-tRNA synthetase (WARS) catalyzes the aminoacylation of tRNA(trp) with tryptophan and is induced by interferon. Tryptophanyl-tRNA synthetase belongs to the class I tRNA synthetase family. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class I
Locus Type
gene with protein product
Location
14q32.2
Ensembl
ENSG00000140105
Associated Conditions (7)
Inborn genetic diseases
Neuronopathy
distal hereditary motor
type 9
See cases
Neurodevelopmental disorder with microcephaly and speech delay
with or without brain abnormalities
Key Variants
RS138324067
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neuronopathy, distal hereditary motor
Health Risk
RS150963629
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS72713916
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS770003315
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, type 9
Health Risk
RS2139927654
Likely pathogenic
Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities, Neurodevelopmental disorder with microcephaly and speech delay
Health Risk
RS550196955
Likely pathogenic
Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities, Neurodevelopmental disorder with microcephaly and speech delay
Health Risk
RS2549306131
Pathogenic
Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities, Neurodevelopmental disorder with microcephaly and speech delay
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138324067 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neuronopathy, distal hereditary motor |
| RS150963629 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS72713916 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS770003315 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, type 9 |
| RS2139927654 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities, Neurodevelopmental disorder with microcephaly and speech delay |
| RS550196955 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities, Neurodevelopmental disorder with microcephaly and speech delay |
| RS2549306131 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities, Neurodevelopmental disorder with microcephaly and speech delay |