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Gene ID: PDHA1
Navigation:Non-Synonymous SNPsSynonymous SNPsIntronic SNPsUntranslated mRNA SNPs
Display: All SwissProt Only dbSNP Only
Gene InfoAnnotation Info
Description:pyruvate dehydrogenase (lipoamide) alpha 1Swiss-Prot Source:ODPA_HUMAN
Chromosome:XNCBI mRNA Source:NM_000284
Gene length: 15915NCBI Protein Source:NP_000275
Exons: 11Gene Symbol: PDHA1
Number of Transcript Variants 0
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Mutation ListBack to top
Source ID AA Position
(help?)		 WT -> MT
(help?)		 Sequence Phenotype Structure PubMed SIFT Score
(help?)
SWISS:VAR_01023810R        PSwiss-Protin PDHE1 deficiency; affects mitochondrial import of precursor proteinNone7573035 0.02*
SWISS:VAR_00494972R        CSwiss-Protin PDHE1 deficiencyNone7887409 8664900
0.00
DBSNP:rs11554111112H        YNCBIIn dbsnp.None 1.00
SWISS:VAR_004950113H        DSwiss-Protin PDHE1 deficiencyNone8664900 0.22
SWISS:VAR_004951162G        RSwiss-Protin PDHE1 deficiencyNone8664900 0.04
SWISS:VAR_004952167V        MSwiss-Protin PDHE1 deficiencyNone8504306 0.00
SWISS:VAR_004953199A        TSwiss-Protin PDHE1 deficiencyNone8504306 0.37
SWISS:VAR_004954205F        LSwiss-Protin LS; PDHE1 deficiencyNone8199595 7887409
0.15
SWISS:VAR_004955210M        VSwiss-Protin PDHE1 deficiencyNone8844217 0.02
DBSNP:rs28935188215L        FNCBIIn dbsnp.None Not scored
SWISS:VAR_004956217P        LSwiss-Protin PDHE1 deficiencyNone7757088 0.00
SWISS:VAR_004957231T        ASwiss-Protin PDHE1 deficiencyNone8504306 0.02
DBSNP:rs28935186241Y        NNCBIIn dbsnp.None Not scored
SWISS:VAR_021053243Y        NSwiss-Protin PDHE1 deficiencyNone8032855 0.05
SWISS:VAR_004958258D        ASwiss-Protin LS; PDHE1 deficiencyNone8498846 0.00
SWISS:VAR_004959263R        GSwiss-Protin PDHE1 deficiencyNone8504306 7887409
8664900 		0.06
SWISS:VAR_004960263R        QSwiss-Protin PDHE1 deficiencyNone7967473 0.18
DBSNP:rs3810710281M        LNCBIIn dbsnp.None 1.00
SWISS:VAR_021055288R        HSwiss-Protin PDHE1 deficiencyNone8664900 0.00
SWISS:VAR_004961292H        LSwiss-Protin PDHE1 deficiencyNone8504306 0.00
SWISS:VAR_004962302R        CSwiss-Protin PDHE1 deficiency; loss of activity; common mutationNone1293379 8664900
9671272 		0.00
SWISS:VAR_004963302R        HSwiss-Protin PDHE1 deficiencyNone9671272 0.00
SWISS:VAR_020908305E        EDSYRT
RE		Swiss-Protin PDHE1 deficiencyNone1551669 Not scored
SWISS:VAR_020909307I

IPPHSY
RTREEI
Swiss-Protin PDHE1 deficiencyNone7545958 Not scored
SWISS:VAR_021056315D        NSwiss-Protin PDHE1 deficiencyNone8032855 0.00
DBSNP:rs2228067332E        DNCBIIn dbsnp.None Not scored
SWISS:VAR_004966378R        HSwiss-Protin LS; PDHE1 deficiencyNone1909401 8032855
7887409 		0.37*
Synonymous MutationsBack to top
Source ID AA Position
(help?)		 WT -> MT
(help?)		 Sequence Phenotype Structure PubMed
DBSNP:rs5955757264A        ANCBIIn dbsnpNone
Intronic SNPsBack to top
Source ID Nucleotide
Position		 WT -> MT Sequence Phenotype Strand PubMed  
DBSNP:rs1286408319272703 A       GNCBIIn dbsnp forward  
DBSNP:rs595575219273193 G       TNCBIIn dbsnp forward  
DBSNP:rs595554819273253 A       GNCBIIn dbsnp forward  
DBSNP:rs652791519274074 A       TNCBIIn dbsnp forward  
DBSNP:rs788332019274564 C       TNCBIIn dbsnp forward  
DBSNP:rs1238738219274723 A       GNCBIIn dbsnp forward  
DBSNP:rs1239295519274792 A       TNCBIIn dbsnp forward  
DBSNP:rs1201165019275108 C       TNCBIIn dbsnp forward  
DBSNP:rs293500019276460 C       TNCBIIn dbsnp reverse  
DBSNP:rs1200934819276707 C       TNCBIIn dbsnp forward  
DBSNP:rs705902419276996 C       TNCBIIn dbsnp forward  
DBSNP:rs789007019278200 C       TNCBIIn dbsnp forward  
DBSNP:rs264345519278600 C       GNCBIIn dbsnp reverse  
DBSNP:rs787739919278689 C       TNCBIIn dbsnp forward  
DBSNP:rs705560519279015 A       TNCBIIn dbsnp forward  
DBSNP:rs285411519279090 A       CNCBIIn dbsnp forward  
DBSNP:rs706060019279939 C       TNCBIIn dbsnp forward  
DBSNP:rs705520919280043 C       GNCBIIn dbsnp forward  
DBSNP:rs595575319280645 A       CNCBIIn dbsnp forward  
DBSNP:rs595575419280714 C       GNCBIIn dbsnp forward  
DBSNP:rs595575519280725 A       CNCBIIn dbsnp forward  
DBSNP:rs595575619280871 C       TNCBIIn dbsnp forward  
DBSNP:rs264345419281272 G       TNCBIIn dbsnp reverse  
DBSNP:rs788689319281447 G       TNCBIIn dbsnp forward  
DBSNP:rs1698109619281782 A       GNCBIIn dbsnp forward  
DBSNP:rs2847343019281970 G       TNCBIIn dbsnp forward  
DBSNP:rs1344087419283372 C       TNCBIIn dbsnp forward  
DBSNP:rs285411319283550 A       CNCBIIn dbsnp forward  
DBSNP:rs264345619283551 A       CNCBIIn dbsnp forward  
DBSNP:rs705820919283709 A       CNCBIIn dbsnp forward  
DBSNP:rs705851819283887 C       GNCBIIn dbsnp forward  
DBSNP:rs1235376319284006 C       TNCBIIn dbsnp forward  
DBSNP:rs1235376619284220 C       TNCBIIn dbsnp forward  
DBSNP:rs663324119284343 A       GNCBIIn dbsnp forward  
DBSNP:rs1344062719284513 C       TNCBIIn dbsnp forward  
DBSNP:rs1200851319284569 G       TNCBIIn dbsnp forward  
DBSNP:rs1201267919284652 C       GNCBIIn dbsnp forward  
DBSNP:rs1344063519284786 C       TNCBIIn dbsnp forward  
DBSNP:rs652791719285348 A       GNCBIIn dbsnp forward  
DBSNP:rs652791819285373 A       CNCBIIn dbsnp forward  
DBSNP:rs788561819285479 A       GNCBIIn dbsnp forward  
DBSNP:rs705923319285630 C       TNCBIIn dbsnp forward  
DBSNP:rs595575819286183 C       TNCBIIn dbsnp forward  
DBSNP:rs1724771619286514 A       GNCBIIn dbsnp forward  
DBSNP:rs595575919286615 C       TNCBIIn dbsnp forward  
DBSNP:rs285411419286888 A       TNCBIIn dbsnp forward  
DBSNP:rs264345719286889 A       TNCBIIn dbsnp forward  
DBSNP:rs1200656219286896 C       GNCBIIn dbsnp forward  
DBSNP:rs595554919287316 C       TNCBIIn dbsnp forward  
DBSNP:rs595576019287504 C       TNCBIIn dbsnp forward  
Untranslated mRNA SNPsBack to top
Source ID Nucleotide
Position		 WT -> MT Sequence Phenotype Strand PubMed  
DBSNP:rs595575119271988 A       GNCBIIn dbsnp forward  
DBSNP:rs1155411219287773 A       GNCBIIn dbsnp reverse  
DBSNP:rs70961019287801 C       TNCBIIn dbsnp forward  
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