Table 3 Summary of genotypic data from 72 alleles in 36 enrolled individuals
NPC alleles (n = 72) | |
|---|---|
Total number of different alleles | 42 |
Known mutations | 34 |
New mutations | 8 |
DNA level mutations | |
Deletion | 4 (5.6%) |
Insertion | 5 (6.9%) |
Substitution | 63 (87.5%) |
Protein level mutations | |
Frameshift | 9 (12.5%) |
Missense | 55 (76.4%) |
Splice | 3 (4.2%) |
Stop codon | 3 (4.2%) |
Unknown | 2 (2.8%) |