Table 2.

Refined SNPs obtained from PhD-SNP, PANTHER, SNPs&GO, Fathmm, and PolyPhen-2 based classification systems.

Amino acid change	PhD-SNP	PANTHER	SNPs&GO	Fathmm	PolyPhen-2
G367R	Disease	Neutral	Neutral	Tolerated	Benign
A348G	Disease	Disease	Disease	Tolerated	Probably damaging
H341Y	Disease	Disease	Disease	Tolerated	Probably damaging
R324L	Disease	Disease	Disease	Tolerated	Probably damaging
A307V	Disease	Neutral	Disease	Tolerated	Benign
T296R	Disease	Neutral	Neutral	Tolerated	Benign
V279G	Disease	Disease	Disease	Tolerated	Benign
G275A	Neutral	Disease	Disease	Tolerated	Probably damaging
V270M	Neutral	Disease	Neutral	Tolerated	Possibly damaging
R264W	Disease	Disease	Disease	Tolerated	Possibly damaging
I251N	Disease	Disease	Disease	Tolerated	Possibly damaging
S231P	Disease	Neutral	Neutral	Tolerated	Possibly damaging
L224F	Disease	Neutral	Neutral	Tolerated	Probably damaging
L251V	Disease	Neutral	Neutral	Tolerated	Probably damaging
R202W	Disease	Disease	Disease	Tolerated	Benign
F173L	Disease	Neutral	Neutral	Tolerated	Possibly damaging
K170N	Neutral	Disease	Neutral	Tolerated	Probably damaging
F145L	Disease	Neutral	Neutral	Tolerated	Benign
L143P	Disease	Disease	Disease	Tolerated	Probably damaging
R130C	Disease	Disease	Disease	Tolerated	Benign
R122W	Disease	Disease	Neutral	Damaging	Benign
M118K	Disease	Disease	Disease	Damaging	Benign
P116S	Neutral	Disease	Neutral	Tolerated	Probably damaging
D108N	Disease	Neutral	Neutral	Tolerated	Probably damaging
R91H	Disease	Neutral	Neutral	Tolerated	Benign
E89D	Disease	Neutral	Disease	Tolerated	Benign
E78K	Disease	Neutral	Neutral	Tolerated	Benign
P70S	Neutral	Neutral	Neutral	Tolerated	Probably damaging
R40P	Disease	Unknown	Neutral	Tolerated	Benign
G31E	Neutral	Unknown	Neutral	Tolerated	Probably damaging
A15P	Disease	Unknown	Neutral	Tolerated	Benign
G14F	Disease	Unknown	Neutral	Tolerated	Benign
N13K	Disease	Unknown	Neutral	Tolerated	Benign
G12E	Disease	Unknown	Neutral	Tolerated	Benign
V9E	Disease	Unknown	Neutral	Tolerated	Benign