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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)