Transcript #00000091

Transcript name aspartyl-tRNA synthetase 2, mitochondrial
Gene name DARS2 (aspartyl-tRNA synthetase 2, mitochondrial)
Chromosome 1
Transcript - NCBI ID NM_018122.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_060592.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

56 entries on 1 page. Showing entries 1 - 56.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.-533G>A p.(=) - - - -
./. - - c.-522G>C p.(=) - - - -
./. - - c.20T>A p.(Leu7*) - - - -
./. - - c.128-5T>A p.? - - - -
+/+ - 2/14 c.133A>G p.(Ser45Gly) - missense_variant - -
./. - - c.133A>G p.(Ser45Gly) - - - -
?/? - - c.228-23_228-22del p.(=) - - - -
+/+ - - c.228-21_228-20del p.(=) - - - -
+/+ - - c.228-21_228-20delinsC p.(=) - - - -
./. - - c.228-21_228-20insC p.(=) - - - -
./. - - c.228-21_228-20insTT p.(=) - - - -
./. - - c.228-12C>G p.(=) - - - -
./. - - c.261T>C p.(=) - - - -
./. - - c.397-6T>G p.(=) - - - -
+/+ - 5/17 c.455G>T p.(Cys152Phe) possibly_damaging(0.498) missense_variant - deleterious(0)
./. - - c.455G>T p.(Cys152Phe) - - - -
+/+ - - c.492+2T>C p.? - splice_donor_variant - -
./. - - c.493-3T>C p.? - - - -
+/+ - 6/17 c.536G>A p.(Arg179His) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.536G>A p.(Arg179His) - - - -
./. - - c.567G>A p.(=) - - - -
-/- - 6/17 c.587A>G p.(Lys196Arg) benign(0.012) missense_variant - tolerated(0.28)
./. - - c.587A>G p.(Lys196Arg) - - - -
./. - - c.663+8T>C p.(=) - - - -
./. - - c.787C>T p.(Arg263*) - - - -
+/+ - 9/17 c.787C>T p.(Arg263*) - stop_gained - -
./. - - c.788G>A p.(Arg263Gln) - - - -
+/+ - 9/17 c.788G>A p.(Arg263Gln) probably_damaging(0.978) missense_variant - deleterious(0.01)
./. - 9/17 c.788G>C p.(Arg263Pro) probably_damaging(0.999) missense_variant - deleterious(0)
./. - - c.834T>C p.(=) - - - -
./. - - c.1013G>A p.(Gly338Glu) - - - -
-/- - 10/17 c.1013G>A p.(Gly338Glu) benign(0.114) missense_variant - tolerated(0.26)
./. - - c.1063T>A p.(Phe355Ile) - - - -
./. - - c.1182T>C p.(=) - - - -
./. - - c.1273G>T p.(Glu425*) - - - -
+/+ - 13/17 c.1273G>T p.(Glu425*) - stop_gained - -
./. - - c.1558A>C p.(Lys520Gln) - - - -
./. - - c.1642C>A p.(Leu548Met) - - - -
./. - - c.1715A>C p.(Asp572Ala) - - - -
./. - - c.1750+11T>C p.(=) - - - -
./. - - c.1758C>T p.(=) - - - -
./. - - c.1804A>G p.(Ile602Val) - - - -
./. - - c.1825C>T p.(Arg609Trp) - - - -
+/+ - 17/17 c.1825C>T p.(Arg609Trp) possibly_damaging(0.773) missense_variant - deleterious(0)
./. - - c.1829G>C p.(Gly610Ala) - - - -
./. - - c.1837C>T p.(Leu613Phe) - - - -
+/+ - 17/17 c.1837C>T p.(Leu613Phe) possibly_damaging(0.55) missense_variant - tolerated(0.09)
./. - - c.1876C>G p.(Leu626Val) - - - -
+/+ - 17/17 c.1876C>G p.(Leu626Val) possibly_damaging(0.841) missense_variant - tolerated(0.1)
./. - - c.1877T>A p.(Leu626Gln) - - - -
+/+ - 17/17 c.1877T>A p.(Leu626Gln) probably_damaging(0.972) missense_variant - deleterious(0.02)
./. - - c.*168C>T p.(=) - - - -
./. - - c.*210T>C p.(=) - - - -
./. - - c.*431G>A p.(=) - - - -
./. - - c.*642C>A p.(=) - - - -
./. - - c.*653T>G p.(=) - - - -
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