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Table 4 The protein stability in missense variants

From: Studying the pathogenicity of 26 variants characterized in the first molecular analyses of Egyptian aplastic anemia patients

Gene

Nucleotide change

AA

Wt/new

Stability

RI

ΔΔG kcal/mol

MPL gene

c.305G>A

Arg/His

Decrease

9

−1.442

c.340G>A

Val/Met

Decrease

7

−2.37

c.401C>G

Ala/Gly

Increase

2

0.17

c.1589 C>T

Pro/leu

Decrease

3

−0.209

c.1631G>A

Arg/Lys

Decrease

8

−0.02

TERT gene

c.484G>A

Val/Met

Decrease

7

−0.8

c.499G>A

Ala/Thr

Decrease

9

−2.12

c.512G>A

Cys/Tyr

Decrease

7

−0.78

C.761G>A

Gly/Glu

Increase

9

0.21

c.835 G>A

Ala/Thr

Decrease

8

−0.682

c.1336C>G

Arg/Gly

Decrease

8

−0.60

c.3164C>G

Ser1/Trp

Decrease

8

−0.31

  1. AA Amino acid, wt Wild type, New amino acid after mutation, RI Reliability index, ΔΔG predicted stability change