Skip to main content

Table 1 List of 91 nsSNP predicted as damaging by SIFT, PolyPhen, I-Mutant, PROVEAN

From: Phenotype prediction for mucopolysaccharidosis type I by in silico analysis

SNP ID AA change SIFT Score PolyPhen Score I-Mutant Score PROVEAN Score
rs121965021 P533R Deleterious 0 Probably damaging 1 Large decrease −0.75 Deleterious −7.1
rs121965029 R89Q Deleterious 0 Probably damaging 1 Large decrease −0.73 Deleterious −3.08
rs121965030 A300T Deleterious 0 Probably damaging 0.999 Large decrease −0.77 Deleterious −3.68
rs121965031 R619G Deleterious 0 Probably damaging 0.999 Large decrease −1.51 Deleterious −4.63
rs121965033 L346R Deleterious 0 Probably damaging 1 Large decrease −1.77 Deleterious −5.3
rs138731804 A160T Deleterious 0 Probably damaging 1 Large decrease −0.67 Deleterious −3.31
rs140294059 C205S Deleterious 0.04 Probably damaging 0.964 Large decrease −1.09 Deleterious −7.57
rs147353014 L237H Deleterious 0 Probably damaging 1 Large decrease −1.98 Deleterious −6.4
rs148789453 L238Q Deleterious 0 Probably damaging 1 Large decrease −2.05 Deleterious −5.33
rs183347428 D223N Deleterious 0 Probably damaging 1 Large decrease −1.01 Deleterious −3.03
rs200448421 R628P Deleterious 0 Probably damaging 0.999 Large decrease −0.72 Deleterious −3.86
rs201268637 R263W Deleterious 0 Probably damaging 0.995 Large decrease −0.71 Deleterious −5.39
rs202051939 S269C Deleterious 0 Probably damaging 1 Large decrease −0.62 Deleterious −3.94
rs368241547 F247 L Deleterious 0.02 Probably damaging 0.993 Large decrease −1.28 Deleterious −4.33
rs368454909 D349N Deleterious 0 Probably damaging 1 Large decrease −0.78 Deleterious −4.64
rs369090960 G265R Deleterious 0 Probably damaging 1 Large decrease −0.66 Deleterious −7.46
rs371397270 D349G Deleterious 0 Probably damaging 1 Large decrease −1.08 Deleterious −6.43
rs373037758 L256P Deleterious 0 Probably damaging 1 Large decrease −1.98 Deleterious −6.1
rs373342547 F143 L Deleterious 0.05 Probably damaging 1 Large decrease −0.69 Deleterious −4.27
rs374699130 A319T Deleterious 0 Probably damaging 1 Large decrease −0.52 Deleterious −3.78
rs374779600 P533A Deleterious 0 Probably damaging 1 Large decrease −1.03 Deleterious −6.51
rs374779600 P533S Deleterious 0 Probably damaging 1 Large decrease −1.18 Deleterious −6.51
rs375300630 G244D Deleterious 0 Probably damaging 1 Large decrease −0.89 Deleterious −5.7
rs376573681 I272T Deleterious 0 Probably damaging 1 Large decrease −2.04 Deleterious −4.43
rs398123253 W434C Deleterious 0 Probably damaging 1 Large decrease −1.19 Deleterious −7.94
rs527336882 L365 V Deleterious 0 Probably damaging 1 Large decrease −1.59 Deleterious −2.65
rs537047205 D119A Deleterious 0 Probably damaging 0.993 Large decrease −0.6 Deleterious −4.43
rs546808806 P377L Deleterious 0 Probably damaging 0.996 Large decrease −0.62 Deleterious −7.86
rs546933529 G253C Deleterious 0 Probably damaging 1 Large decrease −1.21 Deleterious −6.19
rs555091763 I283T Deleterious 0 Probably damaging 0.996 Large decrease −1.76 Deleterious −4.22
rs558683362 M133I Deleterious 0 Probably damaging 0.997 Large decrease −0.61 Deleterious −3.49
rs564306004 G84S Deleterious 0 Probably damaging 1 Large decrease −1.25 Deleterious −4.42
rs587779401 Y625C Deleterious 0 Probably damaging 1 Large decrease −1.41 Deleterious −5.42
rs74385837 L237F Deleterious 0 Probably damaging 1 Large decrease −1.12 Deleterious −3.6
rs746018077 F495 L Deleterious 0 Probably damaging 0.977 Large decrease −0.82 Deleterious −4.36
rs746606129 Q328H Deleterious 0 Probably damaging 1 Large decrease −2.16 Deleterious −4.27
rs746766617 N348 K Deleterious 0 Probably damaging 0.994 Large decrease −0.64 Deleterious −4.96
rs747827435 N350D Deleterious 0 Probably damaging 1 Large decrease −0.6 Deleterious −4.55
rs748239393 F287C Deleterious 0 Probably damaging 1 Large decrease −1.52 Deleterious −6.72
rs748589618 L216P Deleterious 0 Probably damaging 1 Large decrease −1.61 Deleterious −6.03
rs749645656 D477G Deleterious 0 Probably damaging 0.999 Large decrease −1.54 Deleterious −4.93
rs750230093 R255W Deleterious 0 Probably damaging 1 Large decrease −0.56 Deleterious −6.87
rs750496798 R363C Deleterious 0 Probably damaging 1 Large decrease −0.82 Deleterious −7.39
rs750893089 P309T Deleterious 0 Probably damaging 1 Large decrease −1.26 Deleterious −5.62
rs751396984 R383G Deleterious 0 Probably damaging 1 Large decrease −1.15 Deleterious −5.08
rs751547595 A367T Deleterious 0 Probably damaging 0.976 Large decrease −0.92 Deleterious −3.39
rs751676744 V88F Deleterious 0 Probably damaging 1 Large decrease −1.29 Deleterious −3.65
rs751792135 G78D Deleterious 0 Probably damaging 0.998 Large decrease −0.96 Deleterious −3.77
rs751861062 A204T Deleterious 0 Probably damaging 1 Large decrease −0.86 Deleterious −3.67
rs752529809 P385S Deleterious 0 Probably damaging 0.997 Large decrease −1.37 Deleterious −6.99
rs753308650 G168R Deleterious 0 Probably damaging 1 Large decrease −0.69 Deleterious −7.18
rs753875643 P232T Deleterious 0 Probably damaging 1 Large decrease −1.31 Deleterious −6.77
rs753905054 D570G Deleterious 0 Probably damaging 1 Large decrease −0.81 Deleterious −4.43
rs754154200 E182K Deleterious 0 Probably damaging 1 Large decrease −0.88 Deleterious −3.76
rs754674352 P128S Deleterious 0 Probably damaging 1 Large decrease −1.39 Deleterious −6.2
rs754681846 R368C Deleterious 0 Probably damaging 0.976 Large decrease −0.81 Deleterious −6.8
rs754876066 T194P Deleterious 0 Probably damaging 0.999 Large decrease −0.96 Deleterious −4.7
rs754949360 R383H Deleterious 0 Probably damaging 1 Large decrease −1.12 Deleterious −3.8
rs757171895 G208S Deleterious 0 Probably damaging 1 Large decrease −1.19 Deleterious −5.77
rs757706461 P183S Deleterious 0 Probably damaging 1 Large decrease −1.44 Deleterious −7.18
rs758452450 A75T Deleterious 0 Probably damaging 1 Large decrease −0.63 Deleterious −2.58
rs760900176 P229L Deleterious 0 Probably damaging 0.963 Large decrease −0.63 Deleterious −5.85
rs762037549 E582K Deleterious 0 Probably damaging 1 Large decrease −0.66 Deleterious −2.74
rs762623046 R166T Deleterious 0 Probably damaging 0.975 Large decrease −0.96 Deleterious −4.06
rs764882035 V254G Deleterious 0 Probably damaging 0.999 Large decrease −3.19 Deleterious −4.6
rs766030255 T179S Deleterious 0 Probably damaging 0.957 Large decrease −0.58 Deleterious −2.96
rs766033352 I259M Deleterious 0 Probably damaging 1 Large decrease −1.73 Deleterious −2.7
rs76722191 V322E Deleterious 0 Probably damaging 1 Large decrease −0.81 Deleterious −5.5
rs768389832 P54S Deleterious 0 Probably damaging 1 Large decrease −1.43 Deleterious −5.36
rs769331894 F177 L Deleterious 0 Probably damaging 1 Large decrease −1.02 Deleterious −5.27
rs769805145 P288A Deleterious 0 Probably damaging 1 Large decrease −1.34 Deleterious −7.62
rs770087890 G197A Deleterious 0 Probably damaging 0.999 Large decrease −1.07 Deleterious −5.27
rs771733089 R83C Deleterious 0 Probably damaging 0.997 Large decrease −0.89 Deleterious −2.72
rs772416503 P496R Deleterious 0 Probably damaging 1 Large decrease −0.7 Deleterious −7.58
rs772448566 F352 L Deleterious 0 Probably damaging 1 Large decrease −1.17 Deleterious −5.57
rs772855552 A351T Deleterious 0 Probably damaging 0.999 Large decrease −0.75 Deleterious −3.44
rs773471238 V379G Deleterious 0 Probably damaging 1 Large decrease −2.32 Deleterious −5.49
rs773908263 P81S Deleterious 0 Probably damaging 1 Large decrease −1.86 Deleterious −6.31
rs774139207 E299D Deleterious 0 Probably damaging 1 Large decrease −0.77 Deleterious −2.95
rs775542391 L114R Deleterious 0 Probably damaging 1 Large decrease −1.76 Deleterious −4.89
rs775816150 T374P Deleterious 0 Probably damaging 1 Large decrease −0.81 Deleterious −5.09
rs776561903 P55A Deleterious 0 Probably damaging 0.997 Large decrease −1.41 Deleterious −4.57
rs780165694 Y76C Deleterious 0 Probably damaging 1 Large decrease −1.09 Deleterious −4.34
rs781136336 L526P Deleterious 0 Probably damaging 0.999 Large decrease −1.11 Deleterious −3.93
rs781149866 R368H Deleterious 0 Probably damaging 1 Large decrease −1.17 Deleterious −3.47
rs794726877 G51D Deleterious 0 Probably damaging 1 Large decrease −0.59 Deleterious −5.45
rs794727017 P510R Deleterious 0 Probably damaging 1 Large decrease −0.62 Deleterious −5.79
rs794727896 T388 K Deleterious 0 Probably damaging 1 Large decrease −0.74 Deleterious −4.24
rs866224971 R447C Deleterious 0 Probably damaging 0.999 Large decrease −1.12 Deleterious −3.3
rs869025584 L218P Deleterious 0 Probably damaging 0.996 Large decrease −1.63 Deleterious −5.03
rs875989946 W175R Deleterious 0 Probably damaging 1 Large decrease −1.23 Deleterious −13.14
rs375819348 P493R Deleterious 0 Probably damaging 1 Large decrease −0.82 Deleterious −8.33
rs767140903 P302R Deleterious 0 Probably damaging 1 Large decrease −0.95 Deleterious −7.79