Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene

BMC Ophthalmology

Table 3 In silico analysis of UBIAD1 missense variants identified in patients with Schnyder corneal dystrophy in the current study

	MutPred	Polyphen2	PROVEAN	SNP&GO	SIFT	MutationTaster
p.(Ala97Thr)	Disease	Probably damaging	Disease	Disease	Disease	Disease
p.(Leu121Phe)	Disease	Probably damaging	Disease	Benign	Disease	Disease
p.(Thr103Ile)	Possibly damaging	Probably damaging	Disease	Disease	Disease	Disease
p.(Asn102Ser)	Disease	Probably damaging	Disease	Disease	Disease	Disease
p.(Gly176Glu)	Possibly damaging	Probably damaging	Disease	Disease	Disease	Disease

Six different algorithms were used; tolerated and neutral scores are indicated in green as benign; yellow indicates a possibly damaging variant, and red was used for a probably damaging and disease-causing mutation
As for MutPred an overall probability score > 0.5 was considered as possibly damaging and a score > 0.75 was considered as disease-causing. NM_013319.2, NP_037451.1 and ENST00000376810.5 were used as reference sequences

ISSN: 1471-2415