Transcript #00000730 (NM_005391.4, PDK3 gene)

Transcript name transcript variant 2
Gene name PDK3 (pyruvate dehydrogenase kinase, isozyme 3)
Chromosome X
Transcript - NCBI ID NM_005391.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_005382.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

19 entries on 1 page. Showing entries 1 - 19.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.36G>A r.(?) p.(Val12=)
-?/. - c.51G>C r.(?) p.(Glu17Asp)
?/. - c.106+39dup r.(=) p.(=)
-/. - c.249-9del r.(=) p.(=)
-/. - c.249-9dup r.(=) p.(=)
-?/. 4 c.336G>C r.(?) p.(=)
-?/. 4 c.341A>C r.(?) p.(Lys114Thr)
?/. 4 c.376A>G r.(?) p.(Met126Val)
-?/. - c.376A>G r.(?) p.(Met126Val)
-?/. - c.376A>G r.(?) p.(Met126Val)
+/. 4 c.473G>A r.(?) p.(Arg158His)
+/. 4 c.473G>A r.(?) p.(Arg158His)
+/. 4 c.473G>A r.(?) p.Arg158His
+/. 4 c.473G>A r.(?) p.Arg158His
+?/. - c.502C>A r.(?) p.(His168Asn)
?/. - c.596-54_596-53del r.(=) p.(=)
?/. - c.596-54_596-53del r.(=) p.(=)
-?/. 10 c.1001A>C r.(?) p.(Tyr334Ser)
-/. - c.*5072A>C r.(=) p.(=)
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