| Phenotype: | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy |
|---|---|
| Dna Change: | c.1187C>G |
| Protein Change: | p.Ser396Cys |
| Mutation Type: | Substitution |
| Mutation Effect: | Missense |
| Location: | exon 7 |
| Transcript: | NM_000435.2 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Italy | NA | northern and central Italy | 10 patients/53 patients | NA | Testi S et al., 2012Testi S, Malerba G, Ferrarini M, Ragno M, Pradotto L, Mauro A, Fabrizi GM, . Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).. J. Neurol. Sci.. 2012; 319(1):37-41 |
Testi S, Malerba G, Ferrarini M, Ragno M, Pradotto L, Mauro A, Fabrizi GM, Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).J. Neurol. Sci.. 2012; 319(1):37-41