Phenotype prediction for mucopolysaccharidosis type I by in silico analysis

Ou, Li; Przybilla, Michael J.; Whitley, Chester B.

doi:10.1186/s13023-017-0678-1

Orphanet Journal of Rare Diseases

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

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