Variant data provided by Mitomap on 2020-08-07

Info for variant 8344A>G


MITOMAP: Reported Mitochondrial DNA Base Substitution Diseases: rRNA/tRNA Variants

Nucleotide Position Locus Nucleotide Change Disease Homoplasmy/
Heteroplasmy		 MitoTIP † Status Variant Frequency ‡
in 51192 FL Seqs		 Total Variant Count
with Subsets
in 51192 FL Seqs *		 Reference
8344 MT-TK (tRNA Lys) A-G MERRF; Other - LD / Depressive mood disorder / leukoencephalopathy / HiCM -/+ Pathogenic Cfrm 0.008% 4: 3/1/0 references

MITOMAP: mtDNA Somatic Variants

Nucleotide Position Locus Nucleotide Change Cell or Tissue Type Homoplasmy/
Heteroplasmy		 Amino Acid
Change♦		 MitoTIP † Variant Frequency ‡
in 51192 FL Seqs		 Total Variant Count
with Subsets
in 51192 FL Seqs *		 References
8344 MT-TK A-G bone marrow, elderly muscle -/+ tRNA Pathogenic 0.008% 4: 3/1/0 references


† MitoTIP:

For information about the predictive MitoTIP scoring for tRNA variants, please see MitoTIP Info.

‡ High Frequency Haplogroups:

Variants found in haplogroups at 50% or higher are marked with . You may click a flagged link to see the high-scoring haplogroups. For detailed info about the high frequency haplogroup flag, please check the calculation criteria.

*Other Footnotes:

Full Length (FL) sequences are classified into three subsets: aDNA for ancient DNA, CancerCL for cancer, tumor, other abnormal tissues, or cell line studies, and Main for the rest. The total variant count is broken out into these three subsets in this column and shown in the format of Total: Main/aDNA/CancerCL (+CR seqs, if any). Clicking on the count link in the GB Sequences column will display a table with all sequence IDs and haplotypes. Each sequence has a further link to full SNP details provided by Mitomaster.

The current sequence counts are from two sets of human mitochondrial sequences collected from GenBank on May 01, 2020. These sets consist of:

All sequences are pre-loaded into Mitomaster and represent almost all haplogroups known to date. We update and refine this set of sequences on a regular basis. As a caveat, please note that GenBank sequences may not be of equal quality (Yao, et al, 2009), that some of these sequences are from individuals with past, current or future disease, and that this portion of our data set has not been hand-curated by Mitomap.

For more details about the current GenBank sequence set, including haplogroup distribution with sequences and variants for each group, please see GenBank Frequency Info.

For the corrections made in 1999 by Andrews et al to the original Cambridge sequence, see this summary table. Due to rare polymorphisms in the reference sequence, some "variants" are present at more than 80% frequency in one or more of the three major mtDNA lineages. To see a listing of these common variants, please see Mitomap's tabulation of the most prevalent mtDNA variants along with its companion table of top level phylogenetic branch markers.

All nucleotide changes are reported as L-strand substitutions.

Variants reported in patients, but not assigned a "Cfrm" status of pathogenicity by Mitomap, may possibly be included in both the disease variants and general variants tables. Once Mitomap assigns a "Cfrm" status of pathogenicity to a variant, that variant will only be listed in the disease table.