Table 1

List of all intragenic mutations found in SDHB, SDHC and SDHD

GeneMutationAmino acid changeNo. of probandsLOVD ID59 or reference
SDHBc.17_42dup26p.Ala15ProfsX41Jafri et al14
SDHBc.72+1G>ASplice3LOVD ID SDHB_00171
SDHBc.72+1G>CSplice1Ricketts et al10
SDHBc.72+1G>TSplice36LOVD ID SDHB_000065
SDHBc.79C>Tp.Arg27X7LOVD ID SDHB_000006
SDHBc.88delCp.Gln30ArgfsX477LOVD ID SDHB_000017
SDHBc.118A>Gp.Lys40Glu8LOVD ID SDHB_000018
SDHBc.136C>Tp.Arg46X11LOVD ID SDHB_000021
SDHBc.137G>Ap.Arg46Gln22LOVD ID SDHB_000022
SDHBc.141G>Ap.Trp47X1LOVD ID SDHB_000023
SDHBc.166_170delCCTCAp.Pro56TyrfsX52LOVD ID SDHB_000025
SDHBc.268C>Tp.Arg90X8LOVD ID SDHB_000001
SDHBc.282_283insCTTAp.Glu95LeufsX253LOVD ID SDHB_000206
SDHBc.286+2T>ASplice1LOVD ID SDHB_000092
SDHBc.286G>Ap.Gly96Ser6LOVD ID SDHB_000207
SDHBc.287–1G>CSplice1LOVD ID SDHB_000040
SDHBc.292T>Cp.Cys98Arg1LOVD ID SDHB_000068
SDHBc.296G>Ap.Gly99Asp1LOVD ID SDHB_000070
SDHBc.297delCp.Ser100LeufsX41LOVD ID SDHB_000208
SDHBc.298T>Cp.Ser100Pro4LOVD ID SDHB_000089
SDHBc.302G>Ap.Cys101Tyr1LOVD ID SDHB_000041
SDHBc.311delAinsGGp.Asn104ArgfsX154LOVD ID SDHB_000071
SDHBc.325_335del11p.Asn109LeufsX61LOVD ID SDHB_000209
SDHBc.338G>Ap.Cys113Tyr3LOVD ID SDHB_000210
SDHBc.339_352del14p.Cys113X1Not described
SDHBc.343C>Tp.Arg115X6LOVD ID SDHB_000042
SDHBc.379dupAp.Ile127AsnfsX287LOVD ID SDHB_000211
SDHBc.380T>Ap.Ile127Asn2LOVD ID SDHB_000043
SDHBc.380T>Gp.Ile127Ser21LOVD ID SDHB_000072
SDHBc.418G>Tp.Val140Phe3LOVD ID SDHB_000095
SDHBc.423+1G>ASplice3LOVD ID SDHB_000047
SDHBc.445C>Tp.Gln149X1Not described
SDHBc.502dupCp.Gln168ProfsX111LOVD ID SDHB_000075
SDHBc.526G>Tp.Glu176X1LOVD ID SDHB_000212
SDHBc.552C>Gp.Tyr184X1Not described
SDHBc.567_568delTGp.Ala190LeufsX31Not described
SDHBc.587G>Ap.Cys196Tyr7LOVD ID SDHB_000054
SDHBc.590C>Gp.Pro197Arg11LOVD ID SDHB_000002
SDHBc.591delCp.Ser198AlafsX221LOVD ID SDHB_000003
SDHBc.600G>Tp.Trp200Cys17LOVD ID SDHB_000098
SDHBc.642+1G>TSplice1Meyer-Rochow et al60
SDHBc.649C>Tp.Arg217Cys1LOVD ID SDHB_000086
SDHBc.650G>Tp.Arg217Leu1LOVD ID SDHB_000159
SDHBc.660dupTp.Asp221X1LOVD ID SDHB_000057
SDHBc.685_686ins13p.Glu229AlafsX311LOVD ID SDHB_000213
SDHBc.688C>Gp.Arg230Gly1LOVD ID SDHB_000100
SDHBc.688C>Tp.Arg230Cys1LOVD ID SDHB_000058
SDHBc.689G>Ap.Arg230His5LOVD ID SDHB_000108
SDHBc.724C>Tp.Arg242Cys4LOVD ID SDHB_000060
SDHBc.725G>Ap.Arg242His2LOVD ID SDHB_000004
SDHBc.745_748dupTGCAp.Thr250MetfsX71Jafri et al14
SDHCc.1A>TStart codon mutation3LOVD ID SDHD_000006
SDHCc.43C>Tp.Arg15X1LOVD ID SDHC_000013
SDHCc.77+2dupTSplice1Buffet et al28
SDHCc.148C>Tp.Arg50Cys1LOVD ID SDHC_000024
SDHCc.345dupAp.Ala116SerfsX21Not described
SDHCc.378T>Gp.Tyr126X1Not described
SDHCc.380A>Gp.His127Arg7LOVD ID SDHC_000055
SDHCc.397C>Tp.Arg133X5LOVD ID SDHC_000015
SDHDc.1A>GStart codon mutation1LOVD ID SDHD_000021
SDHDc.14G>Ap.Trp5X2LOVD ID SDHD_000026
SDHDc.33C>Ap.Cys11X1LOVD ID SDHD_000027
SDHDc.36dupTp.Ala13CysfsX561Not described
SDHDc.47_52+1del7Splice2Not described
SDHDc.53dupCp.Leu19SerfsX501Not described
SDHDc.57delGp.Leu20CysfsX661LOVD ID SDHD_000080
SDHDc.64C>Tp.Arg22X2LOVD ID SDHD_000012
SDHDc.91dupAp.Ile31AsnfsX381Not described
SDHDc.94_95delTCp.Ala33IlefsX353LOVD ID SDHD_000017
SDHDc.98_108del11p.Ala33GlyfsX321Not described
SDHDc.116_117insGATAp.Pro41TyrfsX291Not described
SDHDc.144_145dupCAp.Ile49ThrfsX383Not described
SDHDc.169+1G>ASplice2LOVD ID SDHD_000132
SDHDc.171delTp.Gly58AlafsX281Not described
SDHDc.191_192delTCp.Leu64ProfsX44LOVD ID SDHD_000013
SDHDc.205G>Tp.Glu69X1Not described
SDHDc.242C>Tp.Pro81Leu39LOVD ID SDHD_000003
SDHDc.242delCp.Pro81ArgfsX51LOVD ID SDHD_000151
SDHDc.274G>Tp.Asp92Tyr3LOVD ID SDHD_000004
SDHDc.276_278delCTAp.Tyr93del2LOVD ID SDHD_000038
SDHDc.296delTp.Leu99ProfsX369LOVD ID SDHD_000040
SDHDc.325C>Tp.Gln109X2LOVD ID SDHD_000046
SDHDc.341A>Gp.Tyr114Cys1LOVD ID SDHD_000007
SDHDc.342T>Ap.Tyr114X2LOVD ID SDHD_000083
  • The 15 mutations labelled as ‘Not described’ have, to the best of our knowledge, not been published elsewhere.