Table 1 Summary of the NOTCH3 mutations detected in our CADASIL families
Family | Ethnicity | Mutation detected | Exon | Amino acid change | Domain | Frequency in our controls (n= 100) |
|---|---|---|---|---|---|---|
A | Saudi | c.406C>T | 3 | p.Arg110>Cys | EGF2 | ND |
B | Kuwait | c.406C>T | 3 | p.Arg110>Cys | EGF2 | ND |
C | Yemen | c.475 C>T | 4 | p.Arg133>Cys | EGF3 | ND |