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Table 4 Results of in silico analysis of the splice site variants found in this study

From: Molecular and clinical characterization of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) in Iranian non-Jewish patients: report of two novel AIRE gene pathogenic variants

Variant Mutation taster Human splice finder BDGP NetGen2 CADD C-scorea
c.308-1G>C Disease causing Broken WT Acceptor Site WT = 0.85; MUT = NR WT = 0.99; MUT = NR 26.2
c.1095+2T>A Disease causing Broken WT Donor Site WT = 0.97; MUT = NR WT = 0.95; MUT = NR 23.0
  1. aA score of greater or equal 20 indicates the 1% most deleterious and so on