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Table 2 The effect of c.773 + 4A > C on protein function by in silico analysis

From: Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review

Software Score Predicted signal
HSFa Site broken (−42.85) Alteration of the WT donor site, most probably affect splicing
MutationTasterb 1 Disease causing
regSNP-intronc 0.822174865 Disease causing
  1. aHSF: www.umd.be/HSF/. The score less than 0 is site broken
  2. bMutationTaster: www.mutationtaster.org. The score is between 0 and 1, it is more likely to be disease causing with the score closer to 1
  3. cregSNP-intron: http://clark.compbio.iupui.edu/regsnp_intron_web/. The score is between 0 and 1, it is more likely to be disease causing with the score closer to 1