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. 2011 Sep;25(5):309–318. doi: 10.1016/S1674-8301(11)60042-0

Table 1. Variations in mtDNA identified in the subjects.

Genetype Nucleotide change Amino acid change Mutation type Category Patients (n)
Controls (n)
Homo-plasmy Heteio-plasmy Homo-plasmy Heteio-plasmy
Mitochondrial 709G>A 12SrRNA Missense undefined 3 0 2 0
752C>T 12SrRNA Missense polymorphism 4 0 1 0
827A>G 12SrRNA Missense pathogenic 6 0 0 0
961T>C 12SrRNA Missense pathogenic 2 0 0 0
1005T>C 12SrRNA Missense polymorphism 6 0 3 0
1048C>T 12SrRNA Missense polymorphism 2 0 0 0
1095T>C 12SrRNA Missense pathogenic 1 0 0 0
1119T>C 12SrRNA Missense polymorphism 3 0 0 0
1382A>G 12SrRNA Missense polymorphism 4 0 3 0
1438A>G 12SrRNA Missense polymorphism 125 0 112 0
1555A>G 12SrRNA Missense pathogenic 2 0 0 0
7445A>G tRNASer(UCN) Missense pathogenic 0 0 0 0
7472insC tRNASer(UCN) Missense pathogenic 0 0 0 0
7511T>C tRNASer(UCN) Missense pathogenic 0 0 0 0
Subtotal 158 0 121 0
DM subtotal 11 0

DM: definite deafening mutations.