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Gene ID: PDHB
Navigation:Non-Synonymous SNPsSynonymous SNPsIntronic SNPsUntranslated mRNA SNPs
Display: All SwissProt Only dbSNP Only
Gene InfoAnnotation Info
Description:pyruvate dehydrogenase (lipoamide) betaSwiss-Prot Source:ODPB_HUMAN
Chromosome:3NCBI mRNA Source:NM_000925
Gene length: 6197NCBI Protein Source:NP_000916
Exons: 10Gene Symbol: PDHB
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_00496731V        LSwiss-ProtNone0.34
DBSNP:rs28935769131Y        CNCBIIn dbsnp.None Not scored
SWISS:VAR_021057132Y        CSwiss-Protin PDHE1 deficiencyNone 0.02
DBSNP:rs13446297Q        KNCBIIn dbsnp.None Not scored
DBSNP:rs11542398298Q        KNCBIIn dbsnp.None Not scored
DBSNP:rs28933391343P        SNCBIIn dbsnp.None Not scored
Synonymous MutationsBack to top
Source ID AA Position
(help?)		 WT -> MT
(help?)		 Sequence Phenotype Structure PubMed
DBSNP:rs1154239943D        DNCBIIn dbsnpNone
DBSNP:rs1154240345E        ENCBIIn dbsnpNone
DBSNP:rs1154240054L        LNCBIIn dbsnpNone
DBSNP:rs4264746144R        RNCBIIn dbsnpNone
DBSNP:rs11542402145G        GNCBIIn dbsnpNone
Intronic SNPsBack to top
Source ID Nucleotide
Position		 WT -> MT Sequence Phenotype Strand PubMed  
DBSNP:rs644598058389091 C       GNCBIIn dbsnp forward  
DBSNP:rs407198558389776 C       TNCBIIn dbsnp reverse  
DBSNP:rs679332858389911 A       GNCBIIn dbsnp forward  
DBSNP:rs1113064058389947 C       GNCBIIn dbsnp forward  
DBSNP:rs1171995758390070 A       GNCBIIn dbsnp forward  
DBSNP:rs207066358390440 A       GNCBIIn dbsnp reverse  
DBSNP:rs458522158390606 C       TNCBIIn dbsnp forward  
DBSNP:rs207066258390629 G       TNCBIIn dbsnp reverse  
DBSNP:rs1192691558391812 A       TNCBIIn dbsnp forward  
DBSNP:rs1171434258391941 A       GNCBIIn dbsnp forward  
DBSNP:rs763660958391945 G       TNCBIIn dbsnp forward  
DBSNP:rs764434858392053 A       GNCBIIn dbsnp forward  
DBSNP:rs764445758392229 C       GNCBIIn dbsnp forward  
DBSNP:rs1192586258392966 A       CNCBIIn dbsnp forward  
DBSNP:rs1113064158392968 C       TNCBIIn dbsnp forward  
Untranslated mRNA SNPsBack to top
Source ID Nucleotide
Position		 WT -> MT Sequence Phenotype Strand PubMed  
DBSNP:rs112673758388444 A       GNCBIIn dbsnp reverse  
DBSNP:rs112673558388447 C       TNCBIIn dbsnp reverse  
DBSNP:rs723158388504 C       GNCBIIn dbsnp reverse  
DBSNP:rs112672258388557 A       CNCBIIn dbsnp reverse  
DBSNP:rs723058388701 C       TNCBIIn dbsnp reverse  
DBSNP:rs422858388708 A       CNCBIIn dbsnp reverse  
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