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Table 5 Summary of number of deleterious genetic variants by subject

From: Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing

ID

TMAO: TMA

Total

FMO3

PYROXD2

Oxido-reductase

DMGDH interact

Rare & shared

52

0.13

4

 

†

§§

 

§

114

0.37

7

†

§§

§

 

§§*

122

0.47

7

††

§

§

 

§§§

35

0.54

4

 

††

  

§§

99

0.58

7

§

§

 

†

§§§§

64

0.61

3

†

§

  

§

62

0.79

4

 

§

§

 

§§

113

0.79

3

†

   

§*

98

0.86

5

††

§

 

†

§

56

0.87

5

†

††

 

†

§

  1. Total = number of variants in all categories. † or § denotes the presence of a relevant allele in that category. Heterozygous = †, homozygous = §, hemizygous = *. FMO3 = variants in the FMO3 gene. PYROXD2 = variants in the PYROXD2 gene (see Table 3). Oxidoreductase = rare variants predicted to be deleterious in genes annotated for oxidoreductase function (similar pathway as FMO3). DMGDH interact = rare variants predicted to be deleterious in genes that are predicted to interact with DMGDH, a gene linked to similar symptoms as TMAU. Rare & shared = rare variants predicted to be deleterious that are shared between two subjects studied here (see Table 4). Table is ordered by TMAO:TMA ratios, starting with the most severely impaired subject