MitoTIP Sub-Scoring for Variant 3243G
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.
L lineages African |
M lineages Asian |
N lineages Eurasian |
Highest hg lineage(s) |
0.03% ( 2 / 6672 ) |
0.01% ( 1 / 12461 ) |
0.01% ( 6 / 41991 ) |
|