Table 1. Pathogenicity of novel missense variants according to bioinformatics data.
| Missense variants | Polyphen-2 Score | Mutation taster | SIFT | gnomAD (allele frequency) |
|---|---|---|---|---|
| Gly460Cys | 1.000 | Disease-causing | Affected, 0.00 | Variant not found |
| Pro572Leu | 0.943 | Disease-causing | Affected, 0.00 | Variant:19:15298041G/A (0.0003, East Asian) |
| Cys245Tyr | 1.000 | Disease-causing | Affected, 0.00 | Variant not found |
| Cys493Ser | 1.000 | Disease-causing | Affected, 0.00 | Variant not found |
| Asp239Asn | 0.974 | Disease-causing | Affected, 0.01 | Variant:19:15302643C/T (0.0001, East Asian) |
| Gly481Cys | 0.984 | Disease-causing | Affected, 0.03 | Variant not found |
| Arg75Gln | 0.603 | Polymorphism | Tolerated, 0.29 | Variant:19:15303304C/T (0.0017, East Asian) |
| Cys134Arg | 1.000 | Disease-causing | Affected, 0.00 | Variant not found |
| Gly73Ser | 0.999 | Disease-causing | Affected, 0.03 | Variant not found |
Polyphen-2 (http://genetics.bwh.harvard.edu/pph2), Mutation taster (http://mutationtaster.org), Sorting intolerant from tolerant (SIFT) (http://sift.jcvi.org), gnomAD (http://gnomad.broadinstitute.org)