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Table 1 Non-synonymous mtDNA sequence changes detected in CADASIL patients

From: Absence of mtDNA mutations in leukocytes of 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
  1. 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).