Viewing single variant in MT-ND1

Uncertain Significance (VUS)Not in ClinVar or MITOMAP — mtDNA classification needs case-level review

MT-ND1:m.4081T>C (p.Phe259Leu)

Tutor Research

Nomenclaturem.4081T>Cp.Phe259LeuchrMT:4081|Not in ClinVar

TypeMissense

InheritanceMitochondrial

gnomAD mtDNA

Absent

of 56,429 genomes

SIFT

tolerated_low_confidence (0.33)

PolyPhen

benign (0.078)

ESM1b

-5.38

Tutor Research

MITOMAPReported

Live entry

Disease: Leber hereditary optic neuropathy (LHON)Reported as: homoplasmicGenBank: 1 sequence

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)

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CTGAACTCTACACAACATATTTTGTCACCAAGACCCTACTT

MT-ND1

m.4061–4101 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.4081 T→C.

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-ND1 →

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.4081T>C

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-ND1:m.4081T>C (p.Phe259Leu)

Where it sits in the mitochondrial genome

Lollipop Plot — Protein Context & Regional Constraint

Population Allele Frequencies

Mechanism of Pathogenicity

External Resources

MT-ND1:m.4081T>C (p.Phe259Leu)

Where it sits in the mitochondrial genome

Lollipop Plot — Protein Context & Regional Constraint

Population Allele Frequencies

Mechanism of Pathogenicity

External Resources