Table 1 Summary of discovered mutations in DBH gene (extracted from http://www.genetest.org).
Nucleotide change | Location | Amino acid change | Mutation type |
|---|---|---|---|
C-1021T | 5' flanking | Noncoding | |
G259A | Exon 1 | V87M | Missense |
IVS1+2T→C | Intron 1 | Noncoding | |
C300A | Exon 2 | D100E | Missense |
IVS3+8C→T | Intron 3 | Noncoding | |
G991A | Exon 6 | D331N | Missense |
IVS10+415A0→G | Intron 10 | Noncoding |