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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
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BMC Medical Genomics

ISSN: 1755-8794

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