Skip to main content

Table 3 Prediction of functional effects of 12 missense substitutions found

From: Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II)

Nucleotide changes number

Nucleotide/protein change

Programs for prediction of nucleotide changes

PolyPhen-2

PMUT pathogenic mutation prediction

Mutation tester

1

c.103G>C; p.Asp35His

Possibly damaging with a score of 0.710

0.47 (83%) Neutral

Disease causing

2

c.136G>T; p.Asp46Tyr

Probably damaging with a score of 1.000

0.94 (94%) Disease

Disease causing

3

c.136G>A; p.Asp46Asn

Probably damaging with a score of 1.000

0.89 (92%) Disease

Disease causing

4

c.283A>T; p.Arg95Trp

Probably damaging with a score of 1.000

0.79 (88%) Disease

Disease causing

5

c.307T>G; Tyr103Asp

Probably damaging with a score of 1.000

0.82 (90%) Disease

Disease causing

6

c.403A>G; p.Lys135Glu

Probably damaging with a score of 1.000

0.94 (94%) Disease

Disease causing

7

c.512G>A; p.Cys171Tyr

Probably damaging with a score of 1.000

0.53 (80%) Disease

Disease causing

8

c.590C>T; p.Pro197Leu

Probably damaging with a score of 0.996

0.69 (86%) Disease

Disease causing

9

c.1028G>A; p.Gly343Glu

Probably damaging with a score of 0.996

0.83 (90%) Disease

Disease causing

10

c.1034G>C; p.Trp345Ser

Probably damaging with a score of 1.000

0.89 (92%) Disease

Disease causing

11

c.1411G>C; p.Asp471His

Probably damaging with a score of 0.999

0.81 (89%) Disease

Disease causing

12

c.1418C>T; p.Pro473Leu

Probably damaging with a score of 0.976

0.72 (86%) Disease

Disease causing