Table 2.
In silico prediction analysis of SPTBN5 variants in the present families.
| Paramètres | Family A | Family B | Family C | Family D |
|---|---|---|---|---|
| Gene name | SPTBN5 | |||
| Other names | BSPECV; HUSPECV; HUBSPECV | |||
| Chromosome location | 15q15.1 | |||
| MIM number | 605916 | |||
| Ensemble ID | ENSG00000137877 | |||
| Total exon | 68 | |||
| cDNA change | c.266A>C | c.9784G>A | c.933C>G | c.8809A>T |
| Protien change | p.His89Pro | p.Glu3262Lys | p.Tyr311Ter | p.Asn2937Tyr |
| Variant exonic location | Exon 3 | Exon 58 | Exon 7 | 53 |
| Variant chromosome location | Chr15:42185210 | Chr15:41853778 | Chr15:41886322 | Chr15: 41856598 |
| Variant type | Non synonymous | Non synonymous | Non synonymous | Non synonymous |
| SIFT | 0.226/Tolerable | 0.127/Tolerable | – | 0.023/Damaging |
| Polyphen-2_HDIV | 0.998/Probably_damaging | 0.003/Benign | – | 0.989/Probably_damaging |
| Polyphen-2_HVAR | 0.939/Probably_damaging | 0.014/Benign | – | 0.832/Possibly_damaging |
| FATHMM | −3.54/ Damaging | 0.73/ Tolerable | – | 0.75/Tolerable |
| Mutation taster | 1.000/Polymorphism | 0.983/Polymorphism | 1/Disease_causing | 0.959/Disease_causing |
| PROVEAN | −5.45/Damaging | 0.25/Tolerable | – | −4.54/Damaging |
| MetaSVM | 0.088/Damaging | −1.014/Tolerable | – | −0.633/Tolerable |
| CADD | 21.2/Damaging | 22.5/Damaging | 35/Damaging | 26.6/Damaging |
| FATHMM_MKL | 0.559/Damaging | 0.513/Damaging | 0.449/Tolerable | 0.990/Damaging |
| GERP++ | 2.82/Conserved | 1.48/conserved | −0.984/Nonconserved | 5.01/Conserved |
| GnomAD_exome All | 0.000004124 | 0.0001 | 0.000008175 | 0.0045 |