Table 4.

Amino acid substitution and predicted effect on protein structure

Variant		Protein		Bioinformatics program and computational analysis results
				PolyPhen-2 †		SIFT ‡			PROVEAN ¶
Allele	dbSNP reference no.	Isoform	Amino acid substitution*	Classification	Score	Classification	Score	MIC	Classification	Score
KF725836	rs150654072	1	Lys63Arg	benign	0.000	tolerated	0.11	1.97	neutral	−0.147
		2	Lys63Arg	benign	0.001	tolerated	0.2	2.74	neutral	−0.147
		3	Lys63Arg	benign	0.002	tolerated	0.09	3.20	neutral	−0.339
KF725831	rs77493670	1	Gln100Arg	possibly damaging	0.95	tolerated	0.54	1.95	neutral	−1.902
		2	Gln100Arg	probably damaging	0.97	damaging	0.04	2.74	neutral	−1.922
		3	Gln100Arg	probably damaging	0.99	tolerated	0.21	3.20	neutral	−1.869
KF725832	rs36023325	1	Val208Leu	benign	0.001	tolerated	0.77	1.97	neutral	0.333
		2	Val208Leu	benign	0.002	tolerated	0.33	2.74	neutral	0.386
		3	Arg182Pro	benign	0.000	damaging	0.01	3.46	neutral	−1.261
KF725833	rs201399464	3	Lys258Thr	benign	0.053	damaging	0	4.32	neutral	−0.412

^*relative to NCBI Reference Sequence NP_001034221.1

^† score 0.00–0.452 = benign, 0.453–0.956 = possibly damaging, 0.957–1.00 = probably damaging

^‡ score ≤0.05 = damaging, >0.05 = tolerated; MIC = median sequence information (range 0 to 4.32)

^¶ score >−2.5 = neutral, score ≤−2.5 = deleterious