Table 1

Non-synonymous mtDNA sequence changes detected in CADASIL patients
Nucleotide substitution
 Amino Acid substitution
 Base substitution type
 Location
 Hetero-plasmy (%)
 Interspecies conservation
 PolyPhen prediction
 Pathogenicity prediction
3851 C>G
 A182G
 Transversion
 TM domain of ND1 gene
 N/A
 Moderate
 Benign
 Non-pathologic
14113 T>C
 F593L
 Transition
 TM domain of ND5 gene
 N/A
 Low
 Benign
 Non-pathologic
14171 A>G
 I168T
 Transition
 TM domain of ND6 gene
 N/A
 Low
 Benign
 Non-pathologic
14966 A>C
 N74H
 Transversion
 Outside the functional domain of CYTB gene
 N/A
 High
 Benign
 Non-pathologic
15048 G>C
 G101A
 Transversion
 Outside the functional domain of CYTB gene
 N/A
 Moderate
 Benign
 Non-pathologic

Base substitution type – Transversion = A mutation in which a purine/pyrimidine replaces a pyrimidine/purine base pair or vice versa [G:C > T:A or C:G, or A:T > T:A or C:G]; Transition = A mutation in which a purine/pyrimidine base pair is replaced with a base pair in the same purine/pyrimidine relationship [A:T > G:C or C:G > T:A]. Interspecies conservation was assessed using PolyPhen [21] which determines interspecies conservation for an altered amino acid by performing alignment with all available amino acid sequences for other species. Pathogenicity prediction = A sequence variant was considered potentially pathogenic if it satisfied all the condition detailed in methods. None of above listed non-synonymous sequence changes were found in ethnicity-matched controls (n = 159).

Abu-Amero et al. BMC Research Notes 2008 1:16   doi:10.1186/1756-0500-1-16