List of all intragenic mutations found in SDHB, SDHC and SDHD
Gene | Mutation | Amino acid change | No. of probands | LOVD ID59 or reference |
SDHB | c.17_42dup26 | p.Ala15ProfsX4 | 1 | Jafri et al 14 |
SDHB | c.72+1G>A | Splice | 3 | LOVD ID SDHB_00171 |
SDHB | c.72+1G>C | Splice | 1 | Ricketts et al 10 |
SDHB | c.72+1G>T | Splice | 36 | LOVD ID SDHB_000065 |
SDHB | c.79C>T | p.Arg27X | 7 | LOVD ID SDHB_000006 |
SDHB | c.88delC | p.Gln30ArgfsX47 | 7 | LOVD ID SDHB_000017 |
SDHB | c.118A>G | p.Lys40Glu | 8 | LOVD ID SDHB_000018 |
SDHB | c.136C>T | p.Arg46X | 11 | LOVD ID SDHB_000021 |
SDHB | c.137G>A | p.Arg46Gln | 22 | LOVD ID SDHB_000022 |
SDHB | c.141G>A | p.Trp47X | 1 | LOVD ID SDHB_000023 |
SDHB | c.166_170delCCTCA | p.Pro56TyrfsX5 | 2 | LOVD ID SDHB_000025 |
SDHB | c.268C>T | p.Arg90X | 8 | LOVD ID SDHB_000001 |
SDHB | c.282_283insCTTA | p.Glu95LeufsX25 | 3 | LOVD ID SDHB_000206 |
SDHB | c.286+2T>A | Splice | 1 | LOVD ID SDHB_000092 |
SDHB | c.286G>A | p.Gly96Ser | 6 | LOVD ID SDHB_000207 |
SDHB | c.287–1G>C | Splice | 1 | LOVD ID SDHB_000040 |
SDHB | c.292T>C | p.Cys98Arg | 1 | LOVD ID SDHB_000068 |
SDHB | c.296G>A | p.Gly99Asp | 1 | LOVD ID SDHB_000070 |
SDHB | c.297delC | p.Ser100LeufsX4 | 1 | LOVD ID SDHB_000208 |
SDHB | c.298T>C | p.Ser100Pro | 4 | LOVD ID SDHB_000089 |
SDHB | c.302G>A | p.Cys101Tyr | 1 | LOVD ID SDHB_000041 |
SDHB | c.311delAinsGG | p.Asn104ArgfsX15 | 4 | LOVD ID SDHB_000071 |
SDHB | c.325_335del11 | p.Asn109LeufsX6 | 1 | LOVD ID SDHB_000209 |
SDHB | c.338G>A | p.Cys113Tyr | 3 | LOVD ID SDHB_000210 |
SDHB | c.339_352del14 | p.Cys113X | 1 | Not described |
SDHB | c.343C>T | p.Arg115X | 6 | LOVD ID SDHB_000042 |
SDHB | c.379dupA | p.Ile127AsnfsX28 | 7 | LOVD ID SDHB_000211 |
SDHB | c.380T>A | p.Ile127Asn | 2 | LOVD ID SDHB_000043 |
SDHB | c.380T>G | p.Ile127Ser | 21 | LOVD ID SDHB_000072 |
SDHB | c.418G>T | p.Val140Phe | 3 | LOVD ID SDHB_000095 |
SDHB | c.423+1G>A | Splice | 3 | LOVD ID SDHB_000047 |
SDHB | c.445C>T | p.Gln149X | 1 | Not described |
SDHB | c.502dupC | p.Gln168ProfsX11 | 1 | LOVD ID SDHB_000075 |
SDHB | c.526G>T | p.Glu176X | 1 | LOVD ID SDHB_000212 |
SDHB | c.552C>G | p.Tyr184X | 1 | Not described |
SDHB | c.567_568delTG | p.Ala190LeufsX3 | 1 | Not described |
SDHB | c.587G>A | p.Cys196Tyr | 7 | LOVD ID SDHB_000054 |
SDHB | c.590C>G | p.Pro197Arg | 11 | LOVD ID SDHB_000002 |
SDHB | c.591delC | p.Ser198AlafsX22 | 1 | LOVD ID SDHB_000003 |
SDHB | c.600G>T | p.Trp200Cys | 17 | LOVD ID SDHB_000098 |
SDHB | c.642+1G>T | Splice | 1 | Meyer-Rochow et al 60 |
SDHB | c.649C>T | p.Arg217Cys | 1 | LOVD ID SDHB_000086 |
SDHB | c.650G>T | p.Arg217Leu | 1 | LOVD ID SDHB_000159 |
SDHB | c.660dupT | p.Asp221X | 1 | LOVD ID SDHB_000057 |
SDHB | c.685_686ins13 | p.Glu229AlafsX31 | 1 | LOVD ID SDHB_000213 |
SDHB | c.688C>G | p.Arg230Gly | 1 | LOVD ID SDHB_000100 |
SDHB | c.688C>T | p.Arg230Cys | 1 | LOVD ID SDHB_000058 |
SDHB | c.689G>A | p.Arg230His | 5 | LOVD ID SDHB_000108 |
SDHB | c.724C>T | p.Arg242Cys | 4 | LOVD ID SDHB_000060 |
SDHB | c.725G>A | p.Arg242His | 2 | LOVD ID SDHB_000004 |
SDHB | c.745_748dupTGCA | p.Thr250MetfsX7 | 1 | Jafri et al 14 |
SDHC | c.1A>T | Start codon mutation | 3 | LOVD ID SDHD_000006 |
SDHC | c.43C>T | p.Arg15X | 1 | LOVD ID SDHC_000013 |
SDHC | c.77+2dupT | Splice | 1 | Buffet et al 28 |
SDHC | c.148C>T | p.Arg50Cys | 1 | LOVD ID SDHC_000024 |
SDHC | c.345dupA | p.Ala116SerfsX2 | 1 | Not described |
SDHC | c.378T>G | p.Tyr126X | 1 | Not described |
SDHC | c.380A>G | p.His127Arg | 7 | LOVD ID SDHC_000055 |
SDHC | c.397C>T | p.Arg133X | 5 | LOVD ID SDHC_000015 |
SDHD | c.1A>G | Start codon mutation | 1 | LOVD ID SDHD_000021 |
SDHD | c.14G>A | p.Trp5X | 2 | LOVD ID SDHD_000026 |
SDHD | c.33C>A | p.Cys11X | 1 | LOVD ID SDHD_000027 |
SDHD | c.36dupT | p.Ala13CysfsX56 | 1 | Not described |
SDHD | c.47_52+1del7 | Splice | 2 | Not described |
SDHD | c.53dupC | p.Leu19SerfsX50 | 1 | Not described |
SDHD | c.57delG | p.Leu20CysfsX66 | 1 | LOVD ID SDHD_000080 |
SDHD | c.64C>T | p.Arg22X | 2 | LOVD ID SDHD_000012 |
SDHD | c.91dupA | p.Ile31AsnfsX38 | 1 | Not described |
SDHD | c.94_95delTC | p.Ala33IlefsX35 | 3 | LOVD ID SDHD_000017 |
SDHD | c.98_108del11 | p.Ala33GlyfsX32 | 1 | Not described |
SDHD | c.116_117insGATA | p.Pro41TyrfsX29 | 1 | Not described |
SDHD | c.144_145dupCA | p.Ile49ThrfsX38 | 3 | Not described |
SDHD | c.169+1G>A | Splice | 2 | LOVD ID SDHD_000132 |
SDHD | c.171delT | p.Gly58AlafsX28 | 1 | Not described |
SDHD | c.191_192delTC | p.Leu64ProfsX4 | 4 | LOVD ID SDHD_000013 |
SDHD | c.205G>T | p.Glu69X | 1 | Not described |
SDHD | c.242C>T | p.Pro81Leu | 39 | LOVD ID SDHD_000003 |
SDHD | c.242delC | p.Pro81ArgfsX5 | 1 | LOVD ID SDHD_000151 |
SDHD | c.274G>T | p.Asp92Tyr | 3 | LOVD ID SDHD_000004 |
SDHD | c.276_278delCTA | p.Tyr93del | 2 | LOVD ID SDHD_000038 |
SDHD | c.296delT | p.Leu99ProfsX36 | 9 | LOVD ID SDHD_000040 |
SDHD | c.325C>T | p.Gln109X | 2 | LOVD ID SDHD_000046 |
SDHD | c.341A>G | p.Tyr114Cys | 1 | LOVD ID SDHD_000007 |
SDHD | c.342T>A | p.Tyr114X | 2 | LOVD ID SDHD_000083 |
The 15 mutations labelled as ‘Not described’ have, to the best of our knowledge, not been published elsewhere.