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H-Invitational ID: HIT000030868 Accession number: BC002406 Created date: 26-Mar-2013 Last modified: 27-May-2015 Definition: Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial; EC=1.2.4.1; PDHE1-A type I; Precursor;

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Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information

Single Nucleotide Polymorphism (SNP) and indel  Location Variation dbSNP ID Strand CDS/UTR Translation 49 .. 49 C/T rs76809608 + 5'UTR 86 .. 86 G/C rs137853257 + CDS Nonsynonymous[Arg10Pro] 154 .. 154 G/C rs150318528 + CDS Nonsynonymous[Asp33His] 191 .. 191 G/A rs144967854 + CDS Nonsynonymous[Arg45Gln] 227 .. 227 C/G rs149083818 + CDS Nonsynonymous[Thr57Ser] 309 .. 309 G/A rs144828838 + CDS Synonymous[Gln84Gln] 394 .. 394 C/T rs11554111 + CDS Nonsynonymous[His113Tyr] 420 .. 420 C/T rs183170654 + CDS Synonymous[His121His] 436 .. 436 C/T rs199959402 + CDS Nonsynonymous[Arg127Trp] 463 .. 463 G/A rs138727886 + CDS Nonsynonymous[Ala136Thr] 564 .. 564 G/A rs141862527 + CDS Synonymous[Ala169Ala] 672 .. 672 C/G rs137853254 + CDS Nonsynonymous[Phe205Leu] 705 .. 705 A/C rs121917898 + CDS Nonsynonymous[Leu216Phe] 717 .. 717 C/T rs145621243 + CDS Synonymous[Phe220Phe] 750 .. 750 G/A rs138237215 + CDS Synonymous[Thr231Thr] 784 .. 784 T/A rs137853255 + CDS Nonsynonymous[Tyr243Asn] 830 .. 830 A/C rs137853253 + CDS Nonsynonymous[Asp258Ala] 841 .. 841 G/A rs202166915 + CDS Nonsynonymous[Val262Ile] 844 .. 844 C/G rs137853259 + CDS Nonsynonymous[Arg263Gly] 852 .. 852 A/C/G rs1126565 + CDS 855 .. 855 A/G rs35752213 + CDS Synonymous[Thr266Thr] 901 .. 901 A/C rs2229137 + CDS Nonsynonymous[Met282Leu] 920 .. 920 G/A rs137853258 + CDS Nonsynonymous[Arg288His] 961 .. 961 C/T rs137853252 + CDS Nonsynonymous[Arg302Cys] 984 .. 984 A/C rs200088791 + CDS Nonsynonymous[Glu309Asp] 1000 .. 1000 G/A rs137853256 + CDS Nonsynonymous[Asp315Asn] 1056 .. 1056 A/C rs2228067 + CDS Nonsynonymous[Glu333Asp] 1119 .. 1119 G/T rs147510382 + CDS Synonymous[Thr354Thr] 1171 .. 1171 G/A rs199879809 + CDS Nonsynonymous[Asp372Asn] 1190 .. 1190 G/A rs137853250 + CDS Nonsynonymous[Arg378His] 1216 .. 1216 A/C rs201156613 + CDS Nonsynonymous[Lys387Gln] 1245 .. 1245 G/C rs200547574 + 3'UTR 1269 .. 1269 C/T rs111666443 + 3'UTR 1312 .. 1312 C/T rs11554112 - 3'UTR 1320 .. 1320 T/A rs147338122 + 3'UTR 1340 .. 1340 C/T rs709610 + 3'UTR 1343 .. 1343 C/G rs182754597 + 3'UTR 1364 .. 1364 C/A rs187360934 + 3'UTR  Microsatellite (Short Tandem Repeat, STR) No data available  Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD) No data available

Repeat  No data available Database links Human-Gene diversity Of Life-style related Diseases(H-GOLD);  Related H-InvDB links VaryGene;  Repeat Mask Viewer;