Table 2 of Nochez, Mol Vis 2009; 15:598-608.

Table 2. Sequence variations of the patient’s mitochondrial genome.

Nucleotide
position		 Amino acid
substitution
Locus		 Presence in
Mitomap database
Status
m.263A>G - MT-DLOOP Yes Polymorphism
m.310_311insC - MT-DLOOP Yes Polymorphism
m.750A>G - MT-RNR1 Yes Polymorphism
m.1438A>G - MT-RNR1 Yes Polymorphism
m.2363A>G - MT-RNR2 No Unknown
m.3010G>A - MT-RNR2 Yes Polymorphism
m.4769A>G p.M100M MT-ND2 Yes Synonymous change
m.8860A>G p.T112A MT-ATP6 Yes Polymorphism
m.9966G>A p.V254I MT-CO3 Yes Polymorphism
m.15326A>G p.T194A MT-CYB Yes Polymorphism
m.15742C>A p.L332L MT-CYB No Synonymous change
m.16092T>C - MT-DLOOP Yes Polymorphism
m.16297T>C - MT-DLOOP Yes Polymorphism
m.16519T>C - MT-DLOOP Yes Polymorphism

The patient's mtDNA was entirely sequenced. The sequence was compared to the revised Cambridge reference sequence of Human mtDNA. The patient was found to carry 14 nucleotide variations. No known or potential pathogenic mtDNA mutation were identified.

Nochez, Mol Vis 2009; 15:598-608. http://www.molvis.org/molvis/v15/a61

©2009 Molecular Vision http://www.molvis.org/molvis/

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