Table 2.
Overview of identified variants (RefSeq: NM_001070.4) and PolyPhen, SIFT, and MutationTaster scores
| Patient ID | 1 | 2 | 3–6 | 7 | 8 |
|---|---|---|---|---|---|
| DNA | c.63C>A | c.985G>T | c.776C>T | c.769A>T | c.776C>T |
| Protein | p.(Phe21Leu) | p.(Asp329Tyr) | p.(Ser259Leu) | p.(Ile257Phe) | p.(Ser259Leu) |
| Exon | 2 | 9 | 8 | 8 | 8 |
| MAF | – | – | – | – | – |
| ExAC | – | – | – | – | – |
| PolyPhen2 (0 = neutral ⇨ 1 = deleterious) |
0.935 | 1.000 | 0.928 | 1.000 | 0.928 |
| SIFT (1 = neutral ⇨ 0 = deleterious) |
1 | 0 | 0.04 | 0 | 0.04 |
| Mutation-Taster (0 = neutral ⇨ 1 = deleterious) |
1 | 1 | 1 | 1 | 1 |
| Align GVGD (C0 = neutral ⇨ C65 = deleterious) |
C0 | C35 | C15 | C15 | C15 |
ExAC exome aggregation consortium, MAF minor allele frequency, PolyPhen2 polymorphism phenotyping v2, SIFT sorting intolerant from tolerant, “–” indicates that no data are available