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Table 1 Private mtDNA variants in two Chinese probands with m.10680G>A

From: Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients

Sample

Nucleotide variant (Amino acid change)

Gene

CIa

Population reportb

Disease reportb

Le1263

m.3548T > C (p.I81T)

MT-ND1

0.907

Yes

Yes

 

m.2352T > C

MT- RNR2

0.047

Yes

No

Le1330

m.13327A > G (p.T331A)

MT-ND5

0.837

Yes

No

 

m.3745G > A (p.A147T)

MT-ND1

0.884

Yes

No

  1. a Conservation index (CI) was estimated by using 43 primate species according to the MitoTool [24].
  2. b The search was performed on Oct 31, 2011 following the same strategy described earlier [23] (e.g. both 'T3548C mtDNA' and 'm.3548T > C mtDNA' were queried).