Table 3.
Summary of in silico and functional analysis of identified SEPRINF1 variants
| Transcript SERPINF1-001 | Transcript SERPINF1-012 | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Nucleotide exchangea | Exon | Protein effect | PolyPhen-2 (HumDiv Score) | MutationTaster (probability) | Nucleotide exchangeb | Exon | Protein effect | Mfold | TF binding | Luciferase activity |
| c.167C>G | 3 | p.Ala56Gly | Probably damaging (0.988) | Disease causing (0.999) | — | — | — | — | — | — |
| c.331G>A | 4 | p.Asp111Asn | Possibly damaging (0.879) | Disease causing (0.999) | — | — | — | — | — | — |
| c.392C>A | 4 | p.Ala131Asp | Probably damaging (0.969) | Disease causing (0.707) | — | — | — | — | — | — |
| c.440-40_440- 38delTCG | — | — | — | Polymorphism (0.999) | c.-202_-200 delTCG | 1 | 5′-UTR | Affected | Affected | Affected |
| c.441G>C | 5 | p.Lys147Asn | Benign (0.135) | Disease causing (0.995) | c.-161G>C | 1 | 5′-UTR | No change | No change | Affected |
| c.601G>A | 5 | p.Asp201Asn | Benign (0.000) | Polymorphism (0.999) | c.-1G>A | 1 | 5′-UTR | No change | Affected | Affected |
aGenBank: NG_028180.1; Ensembl Transcript: ENST00000254722.
bEnsembl Transcript: ENST00000573763.