A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease

Table 2 Nonsynonymous mtDNA variants predicted to be likely pathogenic

Variant	Protein change	Gene	PolyPhen-2 (%)^a	SIFT Blink^b	SNAP^c	Pmut^d	Haplogroup association	Patient haplogroup
m.5095 T > C	p.I209T	MTND2	99.8	0	Pat/58%	Pat/7	Multiple	H2
m.8616G > T	p.L30F	MTATP6	99.9	0	Neutral/85%	Pat/7	I1, M74	I1
m.10192C > T	p.S45F	MTND3	0	0.02	Pat/58%	Pat/6	J1	J1
m.12135C > A	p.S459Y	MTND4	90.6	0	Pat/63%	Pat/9	U8, B4	U8
m.14180 T > C	p.Y165C	MTND6	99.7	0.02	Pat/63%	Pat/7	L2, T2, D4	H1

^aPolyPhen-2 estimated probability of the variant being damaging: probabilities ~50% are classified as possibly damaging and probabilities >90% are classified as probably damaging
^bSIFT score ranges from 0 to 1. The amino acid substitution is predicted damaging if the score is ≤ 0.05, and tolerated if the score is > 0.05
^cSNAP assigns variants as neutral or non-neutral. An expected accuracy percent is given ranging from 50 to 100%, lower than 50% accurate predictions are not reported
^dPMut predicts a variant either pathogenic or neutral. A reliability index is given, ranging from 0 (most unreliable) to 9 (most reliable)
The algorithms used for prediction included PolyPhen-2, SNAP, SIFT BLink and PMut. Variants were considered to be likely pathogenic if at least three algorithms predicted a damaging effect

ISSN: 1471-2350