Mutations with no or unknown pathogenicity | ||||
Mutation | Allele frequency | mCSM | DUET | Predicted effect |
SDHB | – | – | – | – |
p.Ala3Gly | 0.00436 | −0.28 | −0.244 | Neutral |
p.Thr17Ala | Unknown | −0.943 | −0.82 | Destabilising |
p.Cys22Ser | 0.0001331 | 0.119 | 0.135 | Neutral |
p.Arg27Gly | 0.00004183 | −0.229 | −0.208 | Neutral |
p.His57Arg | 0.0007249 | −0.238 | 0.011 | Neutral |
p.Ser100Phe | Unknown | −0.226 | −0.368 | Neutral |
p.Ser163Pro | 0.01254 | −0.136 | −0.03 | Introduction of a conformational restraint |
SDHD | – | – | – | – |
p.Gly12Ser | 0.007268 | −0.377 | −0.134 | Altered localisation |
p.Arg17Leu | Unknown | 0.549 | 0.481 | Mildly stabilising |
p.Ile40Val | 0.00003295 | −0.461 | −0.182 | Neutral |
p.Glu42Ala | Unknown | −0.255 | −0.017 | Neutral |
p.His50Arg | 0.006515 | −0.4 | −0.155 | Altered localisation |
p.Pro87His | Unknown | −0.571 | −0.442 | Neutral |
p.His145Asn | Unknown | −0.055 | 0.018 | Neutral |
Allele frequencies are as reported in the ExAC database (Exome Aggregation Consortium, Cambridge, Massachusetts, USA), all ethnicities, accessed 17 June 201761