Skip to main content

Advertisement

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

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

  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
  1. 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
  2. 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