Transcript #00000089

Transcript name transcript variant X1
Gene name DARS2 (aspartyl-tRNA synthetase 2, mitochondrial)
Chromosome 1
Transcript - NCBI ID XM_005245299.1
Transcript - Ensembl ID -
Protein - NCBI ID XP_005245356.1
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.-691G>A p.(=) - - - -
./. - - c.-680G>C p.(=) - - - -
./. - - c.-139T>A p.(=) - - - -
./. - - c.-31-5T>A p.? - - - -
+/+ - - c.-26A>G p.(=) - - - -
./. - - c.-26A>G p.(=) - - - -
?/? - - c.69+1524_69+1525del p.(=) - - - -
+/+ - - c.69+1526_69+1527del p.(=) - - - -
+/+ - - c.69+1526_69+1527delinsC p.(=) - - - -
./. - - c.69+1526_69+1527insC p.(=) - - - -
./. - - c.69+1526_69+1527insTT p.(=) - - - -
./. - - c.69+1535C>G p.(=) - - - -
./. - - c.69+1580T>C p.(=) - - - -
./. - - c.172-6T>G p.(=) - - - -
+/+ - 4/16 c.230G>T p.(Cys77Phe) - missense_variant - -
./. - - c.230G>T p.(Cys77Phe) - - - -
+/+ - - c.267+2T>C p.? - splice_donor_variant - -
./. - - c.268-3T>C p.? - - - -
./. - - c.311G>A p.(Arg104His) - - - -
+/+ - 5/16 c.311G>A p.(Arg104His) - missense_variant - -
./. - - c.342G>A p.(=) - - - -
-/- - 5/16 c.362A>G p.(Lys121Arg) - missense_variant - -
./. - - c.362A>G p.(Lys121Arg) - - - -
./. - - c.438+8T>C p.(=) - - - -
./. - - c.562C>T p.(Arg188*) - - - -
+/+ - 8/16 c.562C>T p.(Arg188*) - stop_gained - -
./. - - c.563G>A p.(Arg188Gln) - - - -
+/+ - 8/16 c.563G>A p.(Arg188Gln) - missense_variant - -
./. - 8/16 c.563G>C p.(Arg188Pro) - missense_variant - -
./. - - c.609T>C p.(=) - - - -
./. - - c.788G>A p.(Gly263Glu) - - - -
-/- - 9/16 c.788G>A p.(Gly263Glu) - missense_variant - -
./. - - c.838T>A p.(Phe280Ile) - - - -
./. - - c.957T>C p.(=) - - - -
./. - - c.1048G>T p.(Glu350*) - - - -
+/+ - 12/16 c.1048G>T p.(Glu350*) - stop_gained - -
./. - - c.1333A>C p.(Lys445Gln) - - - -
./. - - c.1417C>A p.(Leu473Met) - - - -
./. - - c.1490A>C p.(Asp497Ala) - - - -
./. - - c.1525+11T>C p.(=) - - - -
./. - - c.1533C>T p.(=) - - - -
./. - - c.1579A>G p.(Ile527Val) - - - -
+/+ - 16/16 c.1600C>T p.(Arg534Trp) - missense_variant - -
./. - - c.1600C>T p.(Arg534Trp) - - - -
./. - - c.1604G>C p.(Gly535Ala) - - - -
./. - - c.1612C>T p.(Leu538Phe) - - - -
+/+ - 16/16 c.1612C>T p.(Leu538Phe) - missense_variant - -
./. - - c.1651C>G p.(Leu551Val) - - - -
+/+ - 16/16 c.1651C>G p.(Leu551Val) - missense_variant - -
./. - - c.1652T>A p.(Leu551Gln) - - - -
+/+ - 16/16 c.1652T>A p.(Leu551Gln) - missense_variant - -
./. - - c.*168C>T p.(=) - - - -
./. - - c.*210T>C p.(=) - - - -
./. - - c.*431G>A p.(=) - - - -
./. - - c.*642C>A p.(=) - - - -
./. - - c.*653T>G p.(=) - - - -
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