Table 1.

Functional validations of nsSNPs in Slc11a2 using SIFT, PANTHER-cSNP and PROVEAN.

Amino acid change	SIFT prediction	SIFTscore	Pantherprediction	Pantherscore(subPSEC)	Pdeleterious	PROVEAN prediction	PROVEAN score (cutoff = − 2.5)
V108I	Tolerated	0.07	–	Does not align to HMM	Does not align to HMM	Neutral	− 0.503
I114T	Deleterious	0.01	–	Does not align to HMM	Does not align to HMM	Deleterious	− 3.318
V334A	Tolerated	0.86	Tolerated	− 1.569	0.193	Neutral	− 1.325
T336K	Tolerated	0.87	Tolerated	− 1.268	0.150	Neutral	− 0.385
T343A	Tolerated	1.00	Tolerated	− 2.19479	0.30891	Neutral	0.404
G369R	Deleterious	0	Deleterious	− 5.398	0.917	Deleterious	− 7.858
A371S	Tolerated	0.12	Tolerated	− 2.564	0.393	Neutral	− 2.409
Y374C	Deleterious	0	Deleterious	− 5.197	0.9	Deleterious	− 8.419
A377V	Deleterious	0.01	Deleterious	− 3.86405	0.70351	Deleterious	− 3.835
Q385H	Deleterious	0	Deleterious	− 4.237	0.776	Deleterious	− 4.899
M389V	Deleterious	0.02	Tolerated	− 2.744	0.437	Deleterious	− 3.668
R465Q	Tolerated	0.39	Tolerated	− 2.132	0.296	Neutral	− 0.311
W477L	Tolerated	0.65	Tolerated	− 1.024	0.122	Neutral	− 2.225
L484V	Tolerated	0.55	Tolerated	− 1.540	0.187	Neutral	− 1.12
S490F	Tolerated	0.19	Tolerated	− 1.973	0.264	Deleterious	− 3.106
N492S	Deleterious	0	Deleterious	− 4.673	0.842	Deleterious	− 4.744
V497M	Deleterious	0.03	Tolerated	− 2.734	0.434	Neutral	− 1.549
D502G	Tolerated	0.34	Tolerated	− 1.795	0.230	Neutral	− 1.343
V507A	Tolerated	0.84	Tolerated	− 1.980	0.265	Neutral	1.787
V510M	Tolerated	0.16	Tolerated	− 2.502	0.378	Neutral	− 1.494
A512V	Tolerated	0.96	Tolerated	− 0.927	0.118	Neutral	− 0.17
V517I	Tolerated	0.90	Tolerated	− 1.028	0.122	Neutral	− 0.231