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

Table 4 Rare mtDNA variants discovered in 79 patients with epilepsy

Variant	Gene	Amino acid change	PolyPhen (%)¹	SIFT BLink²	PMut prediction³	PMut reliability score⁴	Database hits⁵	Source
8923A > G	MTATP6	p.T133A	1.1	0	Pathogenic	4	3	Finland, Japan
9480T > C	MTCO3	p.F92L	38.7	0.51	Pathogenic	6	3	Finland
14564A > G	MTND6	p.V37A	0	1	Neutral	0	2	Finland, China⁶
15725C > T	MTCYB	p.L327F	0.1	0.03	Pathogenic	4	3	USA, Native American, Kazakhstan
11392A > G^Novel	MTND4	syn	n.a.	n.a.	n.a.	n.a.	0	n.a.

syn synonymous variant, n.a. not applicable.
¹ http://genetics.bwh.harvard.edu/pph2/ PolyPhen-2 pathogenicity prediction levels: Possibly damaging > 50%, probably damaging > 90%.
² http://sift.jcvi.org/www/SIFT_BLink_submit.html SIFT BLink pathogenicity prediction levels: Damaging amino acid substitutions ≤ 0.05.
³ http://mmb.pcb.ub.es.
⁴ PMut pathogenicity prediction reliability score, 0 (lowest reliable) to 9 (most reliable).
⁵ Number of hits 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 once, if present in both databases.
⁶ A patient with Leber’s hereditary optic neuropathy [49].
GenBank accession: KC763372 - KC763450.

ISSN: 1471-2350