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Table 1 Heteroplasmic variants (HF > 0.3) present in the Wellderly cohort associated with disease in the MitoMap database

From: SG-ADVISER mtDNA: a web server for mitochondrial DNA annotation with data from 200 samples of a healthy aging cohort

Variant Locus Aa Change MitoMap Associated Disease(s) Wellderly n = 200 GB n = 32,059 1000G
     AC AF AC AF AF
961C MT-RNR1   DEAF possibly LVNC-associated 2 0.010 317 0.010 0.0066
961G MT-RNR1   Possibly DEAF-associated 2 0.010 123 0.004 0.0008
2352C MT-RNR2   Possibly LVNC-associated 1 0.005 839 0.026 0.0737
2361A MT-RNR2   Possibly LVNC-associated 1 0.005 107 0.003 0.0058
3010A MT-RNR2   Cyclic Vomiting Syndrome with Migraine 1 0.005 5046 0.157 0.1043
3796G MT-ND1 T164A Adult-Onset Dystonia 1 0.005 174 0.005 0.0029
4454C MT-TM   Possible contributor to mito dysfunction / HTA 1 0.005 185 0.006 0.0041
5913A MT-CO1 D4N Prostate Cancer/hypertension 2 0.010 241 0.008 0.0029
6253C MT-CO1 M117T Prostate Cancer 2 0.010 355 0.011 0.0103
6261A MT-CO1 A120T Prostate Cancer / LHON 1 0.005 176 0.005 0.0054
6489A MT-CO1 L196I Therapy-Resistant Epilepsy 2 0.010 67 0.002 0.0008
7041A MT-CO1 V380I Prostate Cancer 1 0.005 5 0.000 0.0004
8393T MT-ATP8 P10S Reversible brain pseudoatrophy 3 0.015 127 0.004 0.0021
9055A MT-ATP6 A177T PD protective factor 2 0.010 1581 0.049 0.0189
10454C MT-TR   DEAF helper mut 1 0.005 118 0.004 0.0033
11467G MT-ND4 syn Altered brain pH 1 0.005 4213 0.131 0.0717
12372A MT-ND5 syn Altered brain pH 1 0.005 4519 0.141 0.0829
14687G MT-TE   Mito myopathy w respiratory failure 4 0.020 211 0.007 0.0074
15927A MT-TT   Multiple Sclerosis / DEAF1555 inc. penetrance 3 0.015 317 0.010 0.007
16093C MT-DLOOP   Cyclic Vomiting Syndrome 14 0.070 3982 0.124 0.0567
16176T MT-DLOOP   Cyclic Vomiting Syndrome with Migraine 2 0.010 523 0.016 0.0029
16183C MT-DLOOP   Melanoma patients 12 0.060 9632 0.300 0.0869
16192T MT-DLOOP   Melanoma patients 11 0.055 3087 0.096 0.0488
16270T MT-DLOOP   Melanoma patients 8 0.040 3111 0.097 0.0562
  1. As a reference, we also display GenBank and 1000G cohorts. Note that SG-ADVISER mtDNA uses RSRS (Reconstructed Sapiens Reference Sequence) numbering schema whereas data in Mitomap uses Cambridge Reference Sequence (rCRS). We made sure that the numbering schema was equivalent for the variants studied. Acronyms: GB (GenBank), 1000G (1000 Genomes), AF (allele frequency), AC (allele count)