Mutations with no or unknown pathogenicity
MutationAllele frequencymCSMDUETPredicted effect
SDHB
p.Ala3Gly0.00436−0.28−0.244Neutral
p.Thr17AlaUnknown−0.943−0.82Destabilising
p.Cys22Ser0.00013310.1190.135Neutral
p.Arg27Gly0.00004183−0.229−0.208Neutral
p.His57Arg0.0007249−0.2380.011Neutral
p.Ser100PheUnknown−0.226−0.368Neutral
p.Ser163Pro0.01254−0.136−0.03Introduction of a conformational restraint
SDHD
p.Gly12Ser0.007268−0.377−0.134Altered localisation
p.Arg17LeuUnknown0.5490.481Mildly stabilising
p.Ile40Val0.00003295−0.461−0.182Neutral
p.Glu42AlaUnknown−0.255−0.017Neutral
p.His50Arg0.006515−0.4−0.155Altered localisation
p.Pro87HisUnknown−0.571−0.442Neutral
p.His145AsnUnknown−0.0550.018Neutral
  • Allele frequencies are as reported in the ExAC database (Exome Aggregation Consortium, Cambridge, Massachusetts, USA), all ethnicities, accessed 17 June 201761