Polymorphisms in the BHD gene
| Location | Mutation | Patient |
|---|---|---|
| Definition of abbreviations and nucleotide numbering is the same as that indicated in table 2. Lower case letters denote intron, upper case denote exon. | ||
| The polymorphism detected in exon 1 is a nucleotide change in a non-coding sequence whereas a nucleotide change in exon 13 is a silent mutation (488Ala (GCG) → Ala (GCA)). | ||
| Exon 1 | nt157 T → C | B3, B5 |
| Intron 5 | nt852 −14 c → t | B1, B2, B3, B4, B5, B7 |
| Intron 8 | nt1327 +36 g → a | B1, B3, B5 |
| Exon 13 | nt1919 G → A | B4 |