present in Gene: PARS2
present in Chromosome: 1
Position on Chromosome: 54758297
Alleles of this Variant: G/A
rs1553183771 in
PARS2 gene and
Muscle hypotonia
PMID 27290639 2016 New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
PMID 25385316 2015 Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).
PMID 25629079 2015 Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome.
PMID 28077841 2017 PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.
PMID 24639874 2014 The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.
PMID 15779907 2005 Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS.