Absence of mtDNA mutations in leukocytes of CADASIL patients

BMC Research Notes

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).

ISSN: 1756-0500