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Table 2 Nonsynonymous mtDNA variants predicted to be deleterious in 79 patients with epilepsy

From: Mitochondrial DNA variant m.15218A > G in Finnish epilepsy patients who have maternal relatives with epilepsy, sensorineural hearing impairment or diabetes mellitus

Variant

Gene

Amino acid change

PolyPhen (%)1

SIFT Blink2

PMut prediction3

PMut reliability score4

Database hits5

Source

m.9055G > A

MTATP6

p.A177T

84.5

0.01

Pathogenic

7

446

Various

m.9903T > C

MTCO3

p.F233L

75.6

0

Pathogenic

7

4

Africa, Finland, Italy6

m.12613G > A

MTND5

p.A93T

97.2

0

Pathogenic

2

5

Finland, Russia/Tatar

m.14198G > A

MTND6

p.T159M

99.9

0

Pathogenic

0

5

Finland, Japan, Israel, Spain7

m.15218A > G

MTCYB

p.T158A

89.3

0.04

Pathogenic

2

164

Various

  1. 1 http://genetics.bwh.harvard.edu/pph2/ PolyPhen-2 pathogenicity prediction levels: Possibly damaging > 50%, probably damaging > 90%.
  2. 2 http://sift.jcvi.org/www/SIFT_BLink_submit.html SIFT BLink pathogenicity prediction levels: Damaging amino acid substitutions ≤ 0.05.
  3. 3 http://mmb.pcb.ub.es.
  4. 4 PMut pathogenicity prediction reliability score, 0 (lowest reliable) to 9 (most reliable).
  5. 5 Number of sequences among 2704 sequences in mtDB database http://www.mtdb.igp.uu.se/ and among 8813 sequences in HmtDB database http://www.hmtdb.uniba.it accessed in February 2013, each sequence hit was counted only once if present in both databases.
  6. 6 Patient with breast cancer [38].
  7. 7 Patient with glioma [39].