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