Table 2.
Sequence variants in NADSYN1 and their statistics in gnomAD statistics, in silico prediction scores, and in vitro assay results. The RefSeq transcript sequence of the NADSYN1 gene is NM_018161.5. Abbreviations: NA, not available.
| Patient Number | cDNA Change | Protein Change | gnomAD * Allele Frequency | SIFT Prediction Score | Polyphen-2 | GERP++ | CADD-PHRED Score |
|---|---|---|---|---|---|---|---|
| SCO2003P0298 | 232G > A | Val78Ile | 0 | 0.5 | 0.013 | 4.35 | 18.37 |
| SCO2003P1273 | 709G > A | Gly237Arg | 0 | 0 | 0.974 | 4.64 | 23.4 |
| SCO2003P0164 | 861del | Arg288GlufsTer14 | 0 | NA | NA | NA | NA |
| SCO2003P0240 | 1037G > A | Arg346Gln | 0 | 0.01 | 0.994 | 5.11 | 29.6 |
| SCO2003P1980 | 1216C > T | Arg406Ter | 0.0000083 | NA | NA | 3.05 | 42 |
| SCO2003P0096 | 1511G > A | Arg504Gln | 0.00013 | 0.06 | 0.378 | 3.98 | 21.1 |
| SCO2003P0286 | 1762G > A | Glu588Lys | 0 | 0 | 1 | 4.83 | 20.6 |
| SCO2003P0106/SCO2003P0213 | 2083G > A | Glu695Lys | 0.00022 | 0.21 | 0.01 | 2.99 | 11.48 |
* Dataset based on highest MAF in population.