Table 3.

Amino acid substitution and predicted effect on protein structure

			Bioinformatics program and computational analysis results
Variant		Protein	PolyPhen2 †		PROVEAN ‡		SIFT ¶
dbSNP reference no	Nucleotide change	Amino acid substitution *	Classifi- cation	Score	Classifi- cation	Score	Classifi- cation	Score	MIC
rs147820753	c.457C>T	Leu153Phe	benign	0.092	neutral	−2.45	damaging	0.02	2.62
rs2288904	c.461G>A	Arg154Gln	benign	0.0	neutral	0.51	tolerated	1.00	2.62

^*relative to NCBI Reference Sequence NP_065161.3

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

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

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