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Table 3 Defining variants for the three significant contrasts.

From: Mitochondrial genomic variation associated with higher mitochondrial copy number: the Cache County Study on Memory Health and Aging

Branch

Nucleotide Change

Amino Acid Change

Gene

Branch 124

m.9667A>G

p.Asn154Ser

Cytochrome C Oxidase 3

Branch 121

m.12582A>G

p.Leu82Leu

NADH Dehydrogenase 5

 

m.12879T>C

p.Gly181Gly

NADH Dehydrogenase 5

Branch 50

m.5277T>C

p.Phe270Leu

NADH Dehydrogenase 2

 

m.5426T>C

p.His319His

NADH Dehydrogenase 2

 

m.6489C>A

p.Leu196Ile

Cytochrome C Oxidase 1

 

m.8270C>T

N/A

Intergenic

 

m.del8281-8289

N/A

Intergenic

 

m.14458C>T

p.Ala72Ala

NADH Dehydrogenase 6

 

m.15028C>A

p.Leu94Leu

Cytochrome B

 

m.15043G>A

p.Gly99Gly

Cytochrome B

  1. There were three significant contrasts in our dataset, two of which, 124 and 121, which represent a single effect. One or more sequence features define each of the branches, and each is listed here with the resulting protein change, and the gene the feature is located in.
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BMC Bioinformatics

ISSN: 1471-2105

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