Table 1 A summary of all allelic variants in the SDH mutation database as of September 2005.
| Â | Gene | ||||
|---|---|---|---|---|---|
Sequence Variant | SDHA | SDHB | SDHC | SDHD | Total |
Total – Sequence Variants | 5 | 60 | 5 | 50 | 120 |
Total – Mutations | 5 | 47 | 4 | 42 | 98 |
   Missense | 4 | 19 | 1 | 11 | 36 |
   Nonsense (incl. start codon) | 1 | 8 | 1 | 11 | 21 |
   Small Insertions <10 bp | 0 | 4 | 0 | 3 | 7 |
   Small Deletions <10 bp | 0 | 9 | 0 | 13 | 22 |
   Splice site | 0 | 6 | 1 | 2 | 9 |
   Large Insertions/deletions | 0 | 1 | 1 | 2 | 4 |
Total – Polymorphisms | 0 | 13 | 1 | 8 | 22 |
   Synonymous (Silent) | 0 | 3 | 0 | 4 | 7 |
   Non-Synonymous | 0 | 1 | 0 | 2 | 3 |
   Promoter or Intron polymorphisms | 0 | 9 | 1 | 2 | 12 |