MitImpact

Pathogenicity predictions for human mitochondrial DNA variants

Protein-coding · tRNA · rRNA

Try: 8993T>G 12140A>T MT-ND1 p.M1L

Reference: Revised Cambridge Reference Sequence (rCRS) NC_012920.1 · Human mitochondrial genetic code

Second letter

First

Third

UUU, UUC Phe

UUA, UUG Leu

UCU, UCC, UCA, UCG Ser

UAU, UAC Tyr

UAA, UAG Stop

UGU, UGC Cys

UGA Trp *

UGG Trp

U C A G

CUU, CUC, CUA, CUG Leu

CCU, CCC, CCA, CCG Pro

CAU, CAC His

CAA, CAG Gln

CGU, CGC, CGA, CGG Arg

U C A G

AUA Met *

AUU, AUC Ile

AUG Met

ACU, ACC, ACA, ACG Thr

AAU, AAC Asn

AAA, AAG Lys

AGU, AGC Ser

AGA, AGG Stop *

U C A G

GUU, GUC, GUA, GUG Val

GCU, GCC, GCA, GCG Ala

GAU, GAC Asp

GAA, GAG Glu

GGU, GGC, GGA, GGG Gly

U C A G

* differs from the standard (nuclear) genetic code: AUA = Met (not Ile); UGA = Trp (not Stop); AGA/AGG = Stop (not Arg).

Protein-coding available

40+ pathogenicity predictors and meta-predictors, conservation, ΔΔG stability and residue interaction for protein-coding variants.

tRNA available

Dedicated predictions for mitochondrial tRNA variants, tailored to their distinct biology.

rRNA available

Dedicated predictions for mitochondrial rRNA variants, with rRNA-specific features.

Latest update

All news

[29-10-2026] MitImpact 4 is published in Nucleic Acids Research. MitImpact 4: a genome-wide resource for the interpretation of coding and non-coding mitochondrial DNA variants [link]. If you use MitImpact, please cite this paper (see How to cite).