Skip to main content

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