Table 1

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

GeneMutationAmino acid changeNo. of probandsLOVD ID59 or reference
SDHB c.17_42dup26p.Ala15ProfsX41Jafri et al 14
SDHB c.72+1G>ASplice3LOVD ID SDHB_00171
SDHB c.72+1G>CSplice1Ricketts et al 10
SDHB c.72+1G>TSplice36LOVD ID SDHB_000065
SDHB c.79C>Tp.Arg27X7LOVD ID SDHB_000006
SDHB c.88delCp.Gln30ArgfsX477LOVD ID SDHB_000017
SDHB c.118A>Gp.Lys40Glu8LOVD ID SDHB_000018
SDHB c.136C>Tp.Arg46X11LOVD ID SDHB_000021
SDHB c.137G>Ap.Arg46Gln22LOVD ID SDHB_000022
SDHB c.141G>Ap.Trp47X1LOVD ID SDHB_000023
SDHB c.166_170delCCTCAp.Pro56TyrfsX52LOVD ID SDHB_000025
SDHB c.268C>Tp.Arg90X8LOVD ID SDHB_000001
SDHB c.282_283insCTTAp.Glu95LeufsX253LOVD ID SDHB_000206
SDHB c.286+2T>ASplice1LOVD ID SDHB_000092
SDHB c.286G>Ap.Gly96Ser6LOVD ID SDHB_000207
SDHB c.287–1G>CSplice1LOVD ID SDHB_000040
SDHB c.292T>Cp.Cys98Arg1LOVD ID SDHB_000068
SDHB c.296G>Ap.Gly99Asp1LOVD ID SDHB_000070
SDHB c.297delCp.Ser100LeufsX41LOVD ID SDHB_000208
SDHB c.298T>Cp.Ser100Pro4LOVD ID SDHB_000089
SDHB c.302G>Ap.Cys101Tyr1LOVD ID SDHB_000041
SDHB c.311delAinsGGp.Asn104ArgfsX154LOVD ID SDHB_000071
SDHB c.325_335del11p.Asn109LeufsX61LOVD ID SDHB_000209
SDHB c.338G>Ap.Cys113Tyr3LOVD ID SDHB_000210
SDHB c.339_352del14p.Cys113X1Not described
SDHB c.343C>Tp.Arg115X6LOVD ID SDHB_000042
SDHB c.379dupAp.Ile127AsnfsX287LOVD ID SDHB_000211
SDHB c.380T>Ap.Ile127Asn2LOVD ID SDHB_000043
SDHB c.380T>Gp.Ile127Ser21LOVD ID SDHB_000072
SDHB c.418G>Tp.Val140Phe3LOVD ID SDHB_000095
SDHB c.423+1G>ASplice3LOVD ID SDHB_000047
SDHB c.445C>Tp.Gln149X1Not described
SDHB c.502dupCp.Gln168ProfsX111LOVD ID SDHB_000075
SDHB c.526G>Tp.Glu176X1LOVD ID SDHB_000212
SDHB c.552C>Gp.Tyr184X1Not described
SDHB c.567_568delTGp.Ala190LeufsX31Not described
SDHB c.587G>Ap.Cys196Tyr7LOVD ID SDHB_000054
SDHB c.590C>Gp.Pro197Arg11LOVD ID SDHB_000002
SDHB c.591delCp.Ser198AlafsX221LOVD ID SDHB_000003
SDHB c.600G>Tp.Trp200Cys17LOVD ID SDHB_000098
SDHB c.642+1G>TSplice1Meyer-Rochow et al 60
SDHB c.649C>Tp.Arg217Cys1LOVD ID SDHB_000086
SDHB c.650G>Tp.Arg217Leu1LOVD ID SDHB_000159
SDHB c.660dupTp.Asp221X1LOVD ID SDHB_000057
SDHB c.685_686ins13p.Glu229AlafsX311LOVD ID SDHB_000213
SDHB c.688C>Gp.Arg230Gly1LOVD ID SDHB_000100
SDHB c.688C>Tp.Arg230Cys1LOVD ID SDHB_000058
SDHB c.689G>Ap.Arg230His5LOVD ID SDHB_000108
SDHB c.724C>Tp.Arg242Cys4LOVD ID SDHB_000060
SDHB c.725G>Ap.Arg242His2LOVD ID SDHB_000004
SDHB c.745_748dupTGCAp.Thr250MetfsX71Jafri et al 14
SDHC c.1A>TStart codon mutation3LOVD ID SDHD_000006
SDHC c.43C>Tp.Arg15X1LOVD ID SDHC_000013
SDHC c.77+2dupTSplice1Buffet et al 28
SDHC c.148C>Tp.Arg50Cys1LOVD ID SDHC_000024
SDHC c.345dupAp.Ala116SerfsX21Not described
SDHC c.378T>Gp.Tyr126X1Not described
SDHC c.380A>Gp.His127Arg7LOVD ID SDHC_000055
SDHC c.397C>Tp.Arg133X5LOVD ID SDHC_000015
SDHD c.1A>GStart codon mutation1LOVD ID SDHD_000021
SDHD c.14G>Ap.Trp5X2LOVD ID SDHD_000026
SDHD c.33C>Ap.Cys11X1LOVD ID SDHD_000027
SDHD c.36dupTp.Ala13CysfsX561Not described
SDHD c.47_52+1del7Splice2Not described
SDHD c.53dupCp.Leu19SerfsX501Not described
SDHD c.57delGp.Leu20CysfsX661LOVD ID SDHD_000080
SDHD c.64C>Tp.Arg22X2LOVD ID SDHD_000012
SDHD c.91dupAp.Ile31AsnfsX381Not described
SDHD c.94_95delTCp.Ala33IlefsX353LOVD ID SDHD_000017
SDHD c.98_108del11p.Ala33GlyfsX321Not described
SDHD c.116_117insGATAp.Pro41TyrfsX291Not described
SDHD c.144_145dupCAp.Ile49ThrfsX383Not described
SDHD c.169+1G>ASplice2LOVD ID SDHD_000132
SDHD c.171delTp.Gly58AlafsX281Not described
SDHD c.191_192delTCp.Leu64ProfsX44LOVD ID SDHD_000013
SDHD c.205G>Tp.Glu69X1Not described
SDHD c.242C>Tp.Pro81Leu39LOVD ID SDHD_000003
SDHD c.242delCp.Pro81ArgfsX51LOVD ID SDHD_000151
SDHD c.274G>Tp.Asp92Tyr3LOVD ID SDHD_000004
SDHD c.276_278delCTAp.Tyr93del2LOVD ID SDHD_000038
SDHD c.296delTp.Leu99ProfsX369LOVD ID SDHD_000040
SDHD c.325C>Tp.Gln109X2LOVD ID SDHD_000046
SDHD c.341A>Gp.Tyr114Cys1LOVD ID SDHD_000007
SDHD c.342T>Ap.Tyr114X2LOVD ID SDHD_000083
  • The 15 mutations labelled as ‘Not described’ have, to the best of our knowledge, not been published elsewhere.