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Table 1 Mutations in PAH

From: Convert your favorite protein modeling program into a mutation predictor: “MODICT”

Mutation

Residual

Score

 

activity (%)

(Higher means more deleterious)

Y414C

28

0.112

R241C

25

0.136

A403V

32

0.125

R261Q

30

0.071

E390G

75

0.086

R68S

98

0.157

I65T

29

0.153

V245A

50

0.126

L48S

39

0.247

F39L

96

0.136

D415N

72

0.072

A395P

15

0.139

A104D

26

0.091

R408Q

55

0.063

P211T

72

0.185

V388M

43

0.15

R241H

23

0.131

I306V

39

0.161

  1. Mutations in PAH with their residual enzyme activity and modict scores are listed. The values listed are expressed in percentages of residual enzyme activity with respect to wildtype enzyme activity. modict scores are generated taking into account the catalytic domain (143–410; [54]). As outlined in “Results” section, when more than or equal to 3 mutations with enzymatic activities are present, the first method can be used where the correlation between the textscmodict scores and the enzymatic activities are measured. Since higher modict scores are more deleterious, one would expect a negative correlation between modict scores and enzyme activity. The interpretation of these results are explained in more detail in Fig. 6