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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].