Transcript #00000245

Transcript name transcript variant 2
Gene name PDHA1 (pyruvate dehydrogenase (lipoamide) alpha 1)
Chromosome X
Transcript - NCBI ID NM_001173454.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001166925.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

48 entries on 1 page. Showing entries 1 - 48.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
+/+ - 1/6 c.29G>C p.(Arg10Pro) benign(0.262) missense_variant - deleterious(0.02)
./. - - c.29G>C p.(Arg10Pro) - - - -
./. - - c.406-23A>G p.(=) - - - -
./. - - c.536G>A p.(Arg179Gln) - - - -
./. - - c.541G>A p.(Gly181Arg) - - - -
./. - - c.548G>A p.(Cys183Tyr) - - - -
./. - - c.569C>T p.(Ser190Leu) - - - -
./. - - c.575A>G p.(His192Arg) - - - -
./. - - c.605A>G p.(Asn202Ser) - - - -
./. - - c.620C>T p.(Ala207Val) - - - -
./. - - c.650T>G p.(Leu217Arg) - - - -
./. - 8/12 c.727T>A p.(Phe243Ile) possibly_damaging(0.876) missense_variant - deleterious(0)
./. - - c.729C>G p.(Phe243Leu) - - - -
+/+ - 8/12 c.729C>G p.(Phe243Leu) possibly_damaging(0.586) missense_variant - deleterious(0)
./. - - c.754T>C p.(Trp252Arg) - - - -
+/+ - 8/12 c.762A>C p.(Leu254Phe) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.762A>C p.(Leu254Phe) - - - -
+/+ - 8/12 c.841T>A p.(Tyr281Asn) probably_damaging(0.985) missense_variant - deleterious(0)
./. - - c.841T>A p.(Tyr281Asn) - - - -
./. - 8/12 c.844A>C p.(Lys282Gln) possibly_damaging(0.585) missense_variant - deleterious(0.05)
./. - - c.873+26G>A p.(=) - - - -
+/+ - 9/12 c.887A>C p.(Asp296Ala) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.887A>C p.(Asp296Ala) - - - -
+/+ - 9/12 c.901C>G p.(Arg301Gly) probably_damaging(0.998) missense_variant - deleterious(0)
./. - - c.901C>G p.(Arg301Gly) - - - -
+/+ - 10/12 c.958A>C p.(Met320Leu) benign(0.01) missense_variant - tolerated(1)
./. - - c.958A>C p.(Met320Leu) - - - -
./. - - c.975_976insT p.(Arg326Serfs*9) - - - -
./. - - c.977G>A p.(Arg326His) - - - -
+/+ - 10/12 c.977G>A p.(Arg326His) probably_damaging(0.927) missense_variant - deleterious(0)
./. - - c.1014-5_1014-4insATAGTTACCGTACACGAGAAG p.? - - - -
./. - - c.1018C>T p.(Arg340Cys) - - - -
+/+ - 11/12 c.1018C>T p.(Arg340Cys) possibly_damaging(0.538) missense_variant - deleterious(0.01)
./. - - c.1039_1045del p.(Ser350Valfs*12) - - - -
./. - - c.1044_1046del p.(Arg349del) - - - -
./. - - c.1051_1053del p.(Lys351del) - - - -
./. - - c.1051_1053del p.(Lys351del) - - - -
./. - - c.1057G>A p.(Asp353Asn) - - - -
+/+ - 11/12 c.1057G>A p.(Asp353Asn) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.1184_1203del p.(Glu396Glyfs*12) - - - -
./. - - c.1187_1188insGCCACCTTTGGAAGAGCTGGGCTACCACATCTACTC p.(Pro397_Ser408dup) - - - -
./. - - c.1246C>T p.(Arg416Cys) - - - -
+/+ - 12/12 c.1247G>A p.(Arg416His) probably_damaging(0.97) missense_variant - deleterious(0)
./. - - c.1247G>A p.(Arg416His) - - - -
./. - - c.1253_1254insCAAT p.(Trp421Serfs*6) - - - -
./. - - c.1273_1274del p.(Lys425Valfs*44) - - - -
./. - - c.1274_1277del p.(Ser428Lysfs*33) - - - -
./. - - c.*78_*79insAGTCAATGAAAT p.(=) - - - -
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