Analysis of TGFBI Gene Mutations in Three Chinese Families with Corneal Dystrophy

Table 2

Analysis of the effects of TGFBI gene mutations on protein function using different software programs.

Type of mutation	PolyPhen-2 software		SIFT software		MutationTaster software
	Score assessment		Score assessment		Assessment
p.R124L	0.965	Detrimental	0.01	Detrimental	Pathogenic
p.R124C	1	Detrimental	0.01	Detrimental	Pathogenic
p.R124H	0.999	Detrimental	0.03	Detrimental	Pathogenic

All the software programs including PolyPhen-2, SIFT, and MutationTaster predicted that the three mutations (p.R124L, p.R124C, and p.R124H) of the TGFBI were detrimental and pathogenic.