MT-TA:m.5628T>C

Tutor Research

Nomenclaturem.5628T>CchrMT:5628|ClinVar #689961

Typemitochondrial tRNA variant

InheritanceMitochondrial

gnomAD mtDNA

54 hom · 6 het

of 56,413 genomes

MitoTIP

16.7 · Q1 likely pathogenic

PON-mt-tRNA

0.60 · likely pathogenic

Tutor Research

ClinVarBenign

VCV000689961

Review: criteria provided, single submitterSubmitters: 1view ↗Last evaluated: 2019/07/12 00:00

MELAS syndrome[OMIM][MedGen][Orphanet][MONDO]

MITOMAPReported

Live entry

Disease: Chronic progressive external ophthalmoplegia (CPEO) · Maternally inherited or aminoglycoside-induced deafness (DEAF) enhancer · Gout

+1 more

· Tic disorder

Reported as: heteroplasmicGenBank: 143 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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CTGCATCAACTGAACGCAAATCAGCCACTTTAATTAAGCTA

MT-TA (L-strand)

m.5608–5648 of the revised Cambridge Reference Sequence (NC_012920.1); the boxed base is m.5628 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-TA →

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.5628T>C

Resolving variant against ClinVar, gnomAD and Ensembl…

MT-TA:m.5628T>C

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources

MT-TA:m.5628T>C

Where it sits in the mitochondrial genome

Population Allele Frequencies

External Resources