MT-ND1:m.3397A>G (p.Met31Val)

Tutor Research

Nomenclaturem.3397A>Gp.Met31ValchrMT:3397|ClinVar #9726

TypeMissense

InheritanceMitochondrial

gnomAD mtDNA

85 hom · 1 het

of 56,427 genomes

SIFT

deleterious_low_confidence (0)

PolyPhen

benign (0.306)

Tutor Research

ClinVarBenign

VCV000009726

Review: criteria provided, single submitterSubmitters: 4view ↗Last evaluated: 2019/10/17 00:00

Leigh syndrome[OMIM][MedGen][Orphanet][MONDO]

MITOMAPReported

Live entry

Disease: Alzheimer and Parkinson disease (ADPD) · Possibly LVNC-cardiomyopathy associated · Resistance to high altitude pulmonary edemaReported as: homoplasmicGenBank: 179 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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AACGAAAAATTCTAGGCTATATACAACTACGCAAAGGCCCC

MT-ND1

m.3377–3417 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.3397 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.