Transcript #00023869 (NM_000284.3, PDHA1 gene)

Transcript name transcript variant 1
Gene name PDHA1 (pyruvate dehydrogenase (lipoamide) alpha 1)
Chromosome X
Transcript - NCBI ID NM_000284.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000275.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

118 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-88G>A r.(=) p.(=)
?/. - c.-20G>A r.(?) p.(=)
-/. - c.57+1663del r.(=) p.(=)
-?/. - c.57+2455T>A r.(=) p.(=)
-?/. - c.57+2482G>A r.(=) p.(=)
?/. - c.57+2513C>G r.(=) p.(=)
?/. - c.57+2531T>A r.(=) p.(=)
?/. 2 c.65G>C r.(?) p.(Arg22Thr)
-?/. - c.69G>A r.(?) p.(Val23=)
-?/. - c.117+6A>C r.(=) p.(=)
?/. - c.207G>C r.(?) p.(Gln69His)
+/. - c.214C>T r.(?) p.(Arg72Cys)
?/. - c.215G>A r.(?) p.(Arg72His)
+/. - c.262C>T r.(?) p.(Arg88Cys)
?/. - c.291G>A r.spl? p.(?)
./. - c.328delinsAGA r.(?) p.(Pro110Argfs*71)
+?/. - c.364G>C r.(?) p.(Gly122Arg)
+?/. 4 c.394C>T r.(?) p.(Arg132*)
-?/. - c.406G>A r.(?) p.(Ala136Thr)
-?/. - c.406G>A r.(?) p.(Ala136Thr)
-?/. - c.406G>A r.(?) p.(Ala136Thr)
?/. - c.406G>A r.(?) p.(Ala136Thr)
+?/. 5 c.448G>A r.(?) p.(Gly150Arg)
+?/. - c.460C>G r.spl p.(His154Asp)
+?/. 5 c.483C>T r.(?) p.(Tyr161=)
-?/. - c.510+26T>C r.(=) p.(=)
-?/. - c.513G>A r.(?) p.(Val171=)
?/. - c.517C>G r.(?) p.(Leu173Val)
+/. - c.555A>G r.(?) p.(Gly185=)
-/. - c.604-15C>T r.(=) p.(=)
-/. - c.604-10C>T r.(=) p.(=)
?/. - c.685A>G r.(?) p.(Met229Val)
?/. - c.692C>A r.(?) p.(Thr231Lys)
-?/. - c.693G>A r.(?) p.(Thr231=)
-?/. - c.708G>A r.(?) p.(Ala236=)
-?/. - c.759+10C>G r.(=) p.(=)
-?/. 7i c.759+40_759+45dup r.(=) p.(=)
-?/. 7i c.759+40_759+45dup r.(=) p.(=)
+?/. - c.784G>C r.(?) p.(Val262Leu)
?/. - c.788G>C r.(?) p.(Arg263Pro)
-?/. 8 c.795A>G r.(?) p.(=)
?/. - c.796A>G r.(?) p.(Thr266Ala)
-?/. - c.798A>G r.(?) p.(Thr266=)
?/. - c.825_830del r.(?) p.(Lys277_Gly278del)
-?/. - c.831+15C>T r.(=) p.(=)
-/. - c.831+15C>T r.(=) p.(=)
+/. 9 c.832G>A r.(spl?) p.(Gly278Arg)
-?/. - c.844A>C r.(?) p.(Met282Leu)
-/. - c.844A>C r.(?) p.(Met282Leu)
?/. 9 c.844A>C r.(?) p.(Met282Leu)
-/. - c.844A>C r.(?) p.(Met282Leu)
+/. - c.858_861dup r.(?) p.(Arg288Leufs*10)
+/. - c.858_861dup r.(?) p.(Arg288LeufsTer10)
?/. - c.883A>G r.(?) p.(Ser295Gly)
?/. - c.905G>A r.(?) p.(Arg302His)
+/. - c.933_935del r.(?) p.(Arg311del)
+/. - c.936_939del r.(?) p.(Ser312ArgfsTer13)
?/. - c.999A>C r.(?) p.(Glu333Asp)
-/. - c.999A>C r.(?) p.(Glu333Asp)
+/. 11 c.1000_1002del r.(?) p.(Glu334del)
?/. - c.1006_1008+23dup r.spl? p.?
?/. 10i c.1009-31_1009-8del r.spl p.?
+/. - c.1025_1032del r.(?) p.(Val342Glyfs*3)
-?/. - c.1062G>T r.(?) p.(Thr354=)
-?/. - c.1114G>A r.(?) p.(Asp372Asn)
-?/. - c.1114G>A r.(?) p.(Asp372Asn)
+/. - c.1132C>T r.(?) p.(Arg378Cys)
+/. - c.1133G>A r.(?) p.(Arg378His)
+/. - c.1142_1145dup r.(?) p.(Trp383Serfs*6)
+?/. - c.1142_1145dup r.(?) p.(Trp383Serfs*6)
+/. - c.1142_1145dup r.(?) p.(Trp383SerfsTer6)
-?/. - c.1170T>C r.(?) p.(Ser390=)
./. - c.*1132C>G r.(=) p.(=)
?/. - c.*1151G>A r.(=) p.(=)
-?/. - c.*1682T>C r.(=) p.(=)
./. - c.*1869G>C r.(=) p.(=)
?/. - c.*3217_*3221del r.(=) p.(=)
?/. - c.*3220_*3221del r.(=) p.(=)
?/. - c.*3221del r.(?) p.(=)
-?/. - c.*9423C>T r.(=) p.(=)
-?/. - c.*9479G>T r.(=) p.(=)
?/. - c.*9561G>A r.(=) p.(=)
-/. - c.*11342G>A r.(=) p.(=)
-?/. - c.*11692G>A r.(=) p.(=)
?/. - c.*13023T>G r.(=) p.(=)
-?/. - c.*13036G>C r.(=) p.(=)
-?/. - c.*13142C>T r.(=) p.(=)
-?/. - c.*14844C>T r.(=) p.(=)
-?/. - c.*20507G>A r.(=) p.(=)
-?/. - c.*20539G>A r.(=) p.(=)
-?/. - c.*20544C>T r.(=) p.(=)
?/. - c.*32707C>T r.(=) p.(=)
?/. - c.*35445A>G r.(=) p.(=)
?/. - c.*35556C>G r.(=) p.(=)
?/. - c.*38637C>A r.(=) p.(=)
?/. - c.*47551C>T r.(=) p.(=)
-?/. - c.*47592A>G r.(=) p.(=)
-?/. - c.*53741C>T r.(=) p.(=)
?/. - c.*53745C>G r.(=) p.(=)
?/. - c.*53748C>T r.(=) p.(=)
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