Viewing single variant in MT-ND5

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

MT-ND5:m.13849A>C (p.Asn505His)

Tutor Research

Nomenclaturem.13849A>Cp.Asn505HischrMT:13849|Not in ClinVar

TypeMissense

InheritanceMitochondrial

gnomAD mtDNA

2 hom · 0 het

of 56,434 genomes

SIFT

deleterious_low_confidence (0.01)

PolyPhen

benign (0.015)

ESM1b

-5.23

Tutor Research

MITOMAPReported - possibly secondary

Live entry

Disease: Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)Reported as: homoplasmicGenBank: 3 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)

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TTCTAACAGCCCTAGACCTCAACTACCTAACCAACAAACTT

MT-ND5

m.13829–13869 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.13849 A→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-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.13849A>C

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-ND5:m.13849A>C (p.Asn505His)

Where it sits in the mitochondrial genome

Lollipop Plot — Protein Context & Regional Constraint

Population Allele Frequencies

Mechanism of Pathogenicity

External Resources

MT-ND5:m.13849A>C (p.Asn505His)

Where it sits in the mitochondrial genome

Lollipop Plot — Protein Context & Regional Constraint

Population Allele Frequencies

Mechanism of Pathogenicity

External Resources