Viewing single variant in MT-ND1

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

MT-ND1:m.3482A>G (p.Glu59Gly)

Tutor Research

Nomenclaturem.3482A>Gp.Glu59GlychrMT:3482|Not in ClinVar

TypeMissense

InheritanceMitochondrial

gnomAD mtDNA

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not loaded

SIFT

deleterious_low_confidence (0)

PolyPhen

probably_damaging (0.999)

ESM1b

-8.98

Tutor Research

Some data sources returned errors (1) — other data may still be shown below

gnomad: gnomAD lookup failed: Error: gnomAD API error: 429

MITOMAPReported

Live entry

Disease: Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) · Leigh syndrome (LS) overlapReported as: heteroplasmicGenBank: 0 sequences

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

Where it sits in the mitochondrial genome

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

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CATAAAACTCTTCACCAAAGAGCCCCTAAAACCCGCCACAT

MT-ND1

m.3462–3502 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.3482 A→G.

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.