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Table 2 The in-silico analysis of the 11 FBLIM1 gene variants

From: High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO)

NonSynonymous Global MAF In Silico Analysis
rs CDS/AA Allele/MAF PP2 SIFT CADD Mutation Assessor
rs540511146 c.65G > A; p. R22H A/0.00011 PD D LB Medium
rs146575757 c.113G > A; p. R38Q A/0.00391 B T B Low
rs114077715 c.931G > A; p. G311R A/0.01955 B D LB No, data
Synonymous   Global MAF In Silico Analysis (HSF)  
rs CDS/AA Allele/MAF ESS ESE splicing site
rs61733331 c.222G > A; p. Pro74Pro A/0.00675 New ESS Site ESE site broken NASS
rs140170023 c.447G > A; p.Ala149Ala A/0.01200 New ESS Site   NASS
Intronic Variants Global MAF In silico analysis  
rs SNVs Allele/MAF New Site Broken Site TRANSFAC
rs201006671 c.-20-49G > T T/0.0033    Broken site for ENKTF-1
rs76050903 c.-20-48C > A A/0.0033    Broken site for ENKTF-1
rs766409425 c.541 + 13G > A A/0.00003 SF2/ASF SRp40  
rs187479896 c.717 + 14A > G G/0.00083    
rs41310367 c.250 + 32C > A T/0.0191   SF2/ASF/SRp55
rs144567113 c.718-29C > T T/0.01515    
  1. Reference SNPs: rs; coding sequence/aminoacids: CDS/AA; Polyphen-2: PP2
  2. Sorting Intolerant from Tolerant: SIFT; Combined Annotation Dependent Depletion: CADD
  3. Probably Damaging: PD; Deleterious: D; Benign: B; Tolerated: T
  4. Minor Allele Frequency: MAF; Exonic Splicing Silencer: ESS; Exonic Splicing Enhancer: ESE
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Pediatric Rheumatology

ISSN: 1546-0096