Table 2 Statistical assessment of the disease-association of the detected TMPRSS3 mutations using ISVS Simulator.

From: Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen

Mutation

BAM/all

#pat/#non-pat

SVM LR

Second mutations found in patients

Observed

Cumulat.

p.H70Tfs*19

20/23

92/0

929/0

107

p.A138E (7), p.M448T (4), p.H70Tfs*19 (3), p.C194Mfs*17 (3), wt (3), p.S124L (1), c.953-5 A > G (1), p.D334Mfs*24 (1)

p.A138E

16/19

349/0

1076/0

107

p.H70Tfs*19 (7), wt (3), p.A138E (2), p.C73Y (1), p.R109W (1), p.S124L (1), p.C194Mfs*17 (1), c.953-5 A > G (1), p.D334Mfs*24 (1), p.M448T (1)

p.M448T^

10/10

361/0

2599/0

107

p.H70Tfs*19 (4), c.953-5 A > G (2), p.S124L (1), p.A138E (1), c.782 + 2 T > A (1), p.A426T (1),

p.S124L^

4/5

1689/0

1689/0

1390

p.H70Tfs*19 (1), p.A138E (1), p. L325Q (1), p.M448T (1), wt (1)

p.C194Mfs*17^

4/4

2204/1

2204/1

7126

p.H70Tfs*19 (3), p.A138E (1)

c.953-5 A > G^

4/4

2204/1

2204/1

7126

p.M448T (2), p.H70Tfs*19 (1), p.A138E (1)

p.R109W

2/2

4709/57 = 82

4709/57 = 82

90

p.A138E (1), p.R436G (1)

p.D334Mfs*24^

2/2

4709/57 = 82

4709/57 = 82

90

p.H70Tfs*19 (1), p.A138E (1)

p.L325Q^

1/1

7429/655 = 11

7429/655 = 11

10

p.S124L (1)

p.R436G^

1/1

7429/655 = 11

7429/655 = 11

10

p.R109W (1)

p.A426T

1/1

7429/655 = 11

7429/655 = 11

10

p.M448T (1)

c.782 + 2 T > A^

1/1

7429/655 = 11

7429/655 = 11

10

p.M448T (1)

p.C73Y^

1/1

7429/655 = 11

7429/655 = 11

10

p.A138E (1)

  1. BAM/all– number with bi-allelic mutations/total number with given mutation. in brackets - number of patients with a given mutation. The settings for ISVS Simulator: number of patients = 2 200; disease prevalence 1/1000; fraction of disease cases explained by mutation in the gene: 0.02; Number of iterations: 10 000; Number of pathogenic mutations: 10; Number of non-pathogenic mutations: 20; Cumulative frequency of non-pathogenic variants: 0.05.
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