Skip to main content

Table 1 The analysis of pathogenicity of the variants in TARS2

From: Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report

Gene Transcript Mutation Variant origin MAF CADD GERP +  +  SIFT PolyPhen Mutation Taster PROVEAN
gnomAD (EAS AC) ExAC (EAS AC) 1000 Genomes
TARS2 NM_025150.4 c.470C > G p.Thr157Arg paternal 0.000163 0.000116 NE 22.6 5.23 D PD D D
TARS2 NM_025150.4 c.2143G > A p.Glu715Lys maternal NE NE NE 25.7 5.25 D PD D D
  1. MAF minor allele frequency, NE not exist, D disease causing or deleterious or damaging, PD possibly damaging, EAS AC East Asian ExAC
Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us

\