. 2015 Oct 5;5:14731. doi: 10.1038/srep14731

Table 2. Diseased-associated nsSNPs of WFS1 predicted using the PhD-SNP and MutPred servers.

Amino Acid Change	g Value	p Value	Molecular Change	Prediction Reliability	SNP ID^*	Reported or not
Y110N	0.849	0.0133	Gain of disorder	Confident Hypotheses	CM050353	Y⁴¹
R177P	0.817	0.0021	Loss of MoRF binding	Very Confident Hypotheses	CM083208	Y⁴²
P292S	0.942	0.0093	Gain of helix	Very Confident Hypotheses	CM992981	Y²⁰
I296S	0.867	0.0051	Gain of loop	Very Confident Hypotheses	CM992982	Y²⁰
W314R	0.884	0.0162	Gain of methylation at W314	Confident Hypotheses	WFS1_00229	Y⁴³
F329I	0.774	0.0344	Gain of sheet	Actionable Hypotheses	rs188848517	N
S353C	0.502	0.0266	Gain of sheet	Actionable Hypotheses	rs143547567	N
R375H	0.670	0.0444	Loss of helix	Actionable Hypotheses	rs142671083	N
R375C	0.669	0.0444	Loss of helix	Actionable Hypotheses	rs200095753	N
E394V	0.811	0.0425	Gain of helix	Confident Hypotheses	rs146563951	Y⁴⁴
E394K	0.826	0.0176	Gain of methylation at E394	Confident Hypotheses	rs373146435	N
L402P	0.679	0.0215	Gain of relative solvent accessibility	Actionable Hypotheses	CM112216	Y²³
I427S	0.828	0.0082	Gain of disorder	Very Confident Hypotheses	CM073419	Y⁴⁵
S430L	0.793	0.0203	Loss of loop	Confident Hypotheses	WFS1_00218	Y²²
S430W	0.790	0.0266	Gain of sheet	Confident Hypotheses	WFS1_00194	Y²³
F439C	0.835	0.0357	Loss of sheet	Confident Hypotheses	rs141585847	N
S443I	0.836	0.0221	Gain of sheet	Confident Hypotheses	CM015195	Y²¹
C505Y	0.975	0.0062	Loss of catalytic residue at P504	Very Confident Hypotheses	CM031397	Y⁴⁶
L506R	0.858	0.0196	Loss of helix	Confident Hypotheses	CM043878	Y⁴⁷
L511P	0.748	0.0016	Gain of sheet	Actionable Hypotheses		Y²⁵
R517P	0.534	0.0072	Loss of helix	Actionable Hypotheses		N
Y528D	0.939	0.0037	Loss of sheet	Very Confident Hypotheses	CM087003	Y⁴⁸
P533S	0.886	0.0228	Loss of sheet	Confident Hypotheses	rs146132083	Y⁴⁴
L543R	0.768	0.0228	Loss of sheet	Actionable Hypotheses	CM031400	Y⁴⁶
V546D	0.828	0.0037	Loss of sheet	Very Confident Hypotheses	CM031401	Y⁴⁶
R558C	0.890	0.0296	Loss of methylation at R558	Confident Hypotheses	rs199946797	Y⁴⁹
R558H	0.950	0.0296	Loss of methylation at R558	Confident Hypotheses	CM031402	Y⁴⁶
L594R	0.688	0.0344	Gain of sheet	Actionable Hypotheses	rs200288171	N
P607L	0.748	0.0022	Gain of helix	Actionable Hypotheses	rs373862003	N
P607R	0.954	0.0005	Gain of MoRF binding	Very Confident Hypotheses	CM033825	Y⁵⁰
L637P	0.683	0.0072	Loss of helix	Actionable Hypotheses	WFS1_00215	Y⁵¹
E655G	0.756	0.0187	Loss of solvent accessibility	Actionable Hypotheses	CM024439	Y⁴⁴
E655K	0.811	0.0049	Gain of MoRF binding	Very Confident Hypotheses	CM108408	Y⁵²
S662P	0.816	0.0312	Gain of loop	Confident Hypotheses	rs376341411	N
L664R	0.926	0.0090	Gain of MoRF binding	Very Confident Hypotheses	CM090453	Y⁵³
T665I	0.821	0.0117	Gain of helix	Confident Hypotheses		N
L672P	0.874	0.0076	Loss of helix	Very Confident Hypotheses	CM056420	Y⁵⁴
G674R	0.964	0.0328	Gain of MoRF binding	Confident Hypotheses	rs200672755	Y⁵⁵
G674V	0.958	0.0325	Gain of helix	Confident Hypotheses	CM020991	Y⁵⁶
W678L	0.933	0.0132	Loss of catalytic residue at A677	Confident Hypotheses	CM073425	Y⁵⁷
A684V	0.755	0.0104	Loss of helix	Actionable Hypotheses	rs387906930	Y²¹
R685P	0.859	0.0033	Loss of helix	Very Confident Hypotheses		Y⁵⁸
C690R	0.945	0.0008	Gain of MoRF binding	Very Confident Hypotheses	CM992988	Y²⁰
C690G	0.955	0.0115	Gain of disorder	Confident Hypotheses	CM087004	Y⁴⁸
G695V	0.911	0.0036	Gain of sheet	Very Confident Hypotheses	rs28937891	Y⁶
H696Y	0.764	0.0390	Gain of sheet	Actionable Hypotheses	WFS1_00098	Y⁵⁹
W700C	0.942	0.0157	Loss of MoRF binding	Confident Hypotheses	CM992989	Y²⁰
G702S	0.887	0.0315	Loss of sheet	Confident Hypotheses	rs71532862	Y²³
G702D	0.96	0.0315	Loss of sheet	Confident Hypotheses	CM090455	Y⁵³
R708C	0.921	0.0182	Loss of MoRF binding	Confident Hypotheses	rs200099217	Y²¹
L723P	0.731	0.0045	Gain of loop	Actionable Hypotheses		Y²³
P724L	0.926	0.0336	Loss of catalyticresi due at P724	Confident Hypotheses	rs28937890	Y⁶
R732H	0.855	0.0444	Loss of helix	Confident Hypotheses	rs149013740	N
R732C	0.848	0.0376	Loss of helix	Confident Hypotheses	rs71526458	N
G736D	0.934	0.0425	Gain of helix	Confident Hypotheses	rs71530912	N
G736R	0.965	0.0117	Gain of helix	Confident Hypotheses		Y⁶⁰
Y739D	0.736	0.0332	Gain of disorder	Actionable Hypotheses	rs367737581	N
C742R	0.814	0.013	Gain of disorder	Confident Hypotheses	rs71532865	N
E776V	0.939	0.050	Gain of MoRF binding	Confident Hypotheses	rs56002719	Y⁴⁷
L804P	0.768	0.0063	Loss of sheet	Actionable Hypotheses	WFS1_00226	Y²⁶
L829P	0.928	0.0079	Gain of loop	Very Confident Hypotheses	rs104893883	Y⁶¹
G831D	0.923	0.0143	Gain of helix	Confident Hypotheses	rs28937895	Y⁶¹
R832C	0.505	0.0228	Loss of sheet	Actionable Hypotheses	rs148089728	N
R859W	0.596	0.0152	Loss of disorder	Actionable Hypotheses	rs372298367	N
R859P	0.853	0.0315	Loss of sheet	Confident Hypotheses	CM052943	Y²⁷
H860D	0.769	0.0104	Loss of sheet	Actionable Hypotheses	CM043881	Y⁴⁷
E864K	0.901	0.0016	Gain of MoRF binding	Very Confident Hypotheses	rs74315205	Y⁶²
R868C	0.843	0.0179	Loss of disorder	Confident Hypotheses	rs148611943	N
A874T	0.769	0.0061	Gain of sheet	Actionable Hypotheses	rs200775335	N
P885L	0.953	0.0117	Gain of helix	Confident Hypotheses	rs372855769	Y²⁰

^*In the SNP ID column, the nsSNPs with the prefix “rs” are from dbSNP, and those with the prefix “CM” and “WFS1_” are from HGMD and Locus Specific Database, respectively, and the remaining with no SNP ID are in the Deafness Variation Database.The nsSNPs highlighted in bold are potential pathogenic nsSNPs which have not been reported.