Table 5. [Selected Pathogenic Variants in Mitochondrial...]. - GeneReviews®

Mitochondrial DNA Nucleotide Change	Gene	Predicted Protein Change	Reference Sequence
m.3243A>G	MT-TL1	Not applicable	NC_012920.1
m.3460G>A	MT-ND1	p.Ala52Thr
m.3481G>A	p.Glu59Lys
m.3890G>A	p.Arg195Gln
m.4681T>C	MT-ND2	p.Leu71Pro
m.5523T>G	MT-TW	Not applicable
m.5537_5538insT	Not applicable
m.5559A>G	Not applicable
m.8344A>G	MT-TK	Not applicable
m.8363G>A	Not applicable
m.8851T>C	MT-ATP6	p.Trp109Arg
m.8993T>G	p.Leu156Arg
m.8993T>C	p.Leu156Pro
m.9176T>C	p.Leu217Pro
m.9176T>G	p.Leu271Arg
m.9185T>C	p.Leu220Pro
m.9191T>C	p.Leu222Pro
m.9478T>C	MT-CO3	p.Val91Ala
m.9537_9538insC	Frameshift
m.10158T>C	MT-ND3	p.Ser34Pro
m.10191T>C	p.Ser45Pro
m.10197G>A	p.Ala47Thr
m.10254G>A	p.Asp66Asn
m.11777C>A	MT-ND4	p.Arg340Ser
m.11984T>C	p.Tyr409His
m.12706T>C	MT-ND5	p.Phe124Leu
m.13513G>A	p.Asp393Asn
m.13514A>G	p.Asp393Gly
m.14484T>C	MT-ND6	p.Met64Val
m.14459G>A	p.Ala72Val
m.14487T>C	p.Met63Val
m.1624C>T	MT-TV	Not applicable
m.1644G>T	Not applicable

Mitochondrial DNA
Nucleotide Change

Gene

Predicted Protein Change

Reference Sequence

m.3243A>G

MT-TL1

Not applicable

NC_012920.1

m.3460G>A

MT-ND1

p.Ala52Thr

m.3481G>A

p.Glu59Lys

m.3890G>A

p.Arg195Gln

m.4681T>C

MT-ND2

p.Leu71Pro

m.5523T>G

MT-TW

Not applicable

m.5537_5538insT

Not applicable

m.5559A>G

Not applicable

m.8344A>G

MT-TK

Not applicable

m.8363G>A

Not applicable

m.8851T>C

MT-ATP6

p.Trp109Arg

m.8993T>G

p.Leu156Arg

m.8993T>C

p.Leu156Pro

m.9176T>C

p.Leu217Pro

m.9176T>G

p.Leu271Arg

m.9185T>C

p.Leu220Pro

m.9191T>C

p.Leu222Pro

m.9478T>C

MT-CO3

p.Val91Ala

m.9537_9538insC

Frameshift

m.10158T>C

MT-ND3

p.Ser34Pro

m.10191T>C

p.Ser45Pro

m.10197G>A

p.Ala47Thr

m.10254G>A

p.Asp66Asn

m.11777C>A

MT-ND4

p.Arg340Ser

m.11984T>C

p.Tyr409His

m.12706T>C

MT-ND5

p.Phe124Leu

m.13513G>A

p.Asp393Asn

m.13514A>G

p.Asp393Gly

m.14484T>C

MT-ND6

p.Met64Val

m.14459G>A

p.Ala72Val

m.14487T>C

p.Met63Val

m.1624C>T

MT-TV

Not applicable

m.1644G>T

Not applicable

From: Mitochondrial DNA-Associated Leigh Syndrome and NARP

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.