MT-ND5:m.13590G>A (p.Leu418=)

Tutor Research

Nomenclaturem.13590G>Ap.Leu418=chrMT:13590|Not in ClinVar

TypeSynonymous

InheritanceMitochondrial

gnomAD mtDNA

6,120 hom · 2 het

of 56,402 genomes

Tutor Research

MITOMAPReported

Live entry

Disease: Possible protective factor for high altitude sickness · PCOS patientGenBank: 3,917 sequences

MITOMAP (mitomap.org), CC BY 3.0 · disease table as of 2026-10-07

Where it sits in the mitochondrial genome

Tap or hover a gene, landmark or tick; genes open their page, ticks their variant.

proteinrRNAtRNAouter ring H-strand · inner L-strandMITOMAP confirmedreported (as of 2026-10-07)

|||||

ACTCTCATCGCTACCTCCCTGACAAGCGCCTATAGCACTCG

MT-ND5

m.13570–13610 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.13590 G→A.

37 genes from Ensembl (rCRS numbering, matched to MITOMAP’s Gene Loci); landmarks and disease alleles from MITOMAP (CC BY 3.0). Circular layout after MitoWheel.

Open Research Assistant for MT-ND5 →

External Resources

Franklin (Genoox)

AI-powered curation

MITOMAP

mtDNA variant database · expect a security check

VarSome

Variant interpretation · expect a security check

OMIM

Gene & phenotype

gnomAD

mtDNA frequencies (v3.1)

UCSC Browser

Genome browser

m.13590G>A

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-ND5:m.13590G>A (p.Leu418=)

Where it sits in the mitochondrial genome

Lollipop Plot — Protein Context & Regional Constraint

Population Allele Frequencies

Mechanism of Pathogenicity

External Resources

MT-ND5:m.13590G>A (p.Leu418=)

Where it sits in the mitochondrial genome

Lollipop Plot — Protein Context & Regional Constraint

Population Allele Frequencies

Mechanism of Pathogenicity

External Resources