MitoTIP Sub-Scoring for Variant 3243G

MitoTIP Scoring Details

rCRS Position	rCRS NT	Query NT	Numerical Scores				Percentile	Status
			Variant Hx and Conservation	Variant Location	2° Structure	Prediction
3243	A	G	11.500	1.848	0.000	13.348	58.80%	confirmed pathogenic *

* Additional lines of evidence led to confirmation of pathogenicity for this tRNA variant. Examples of factors supporting confirmation of pathogencity: determination of heteroplasmy levels; correlation of heteroplasmy with phenotype; presence of variant in multiple unrelated affected families; functional cybrid studies; tRNA steady state levels; single fiber studies.

GenBank Frequency Information

L lineages African	M lineages Asian	N lineages Eurasian	Highest hg lineage(s)
0.04% ( 3 / 6836 )	0.01% ( 1 / 12945 )	0.01% ( 6 / 42735 )	L1 0.20% ( 2 / 997 )