Table 5. Alterations in the coding sequence of the WWOX gene.
| Exon | Position | Alteration | n (%) | dbSNP ID | PolyPhen-2 | % Damage vs benign |
|---|---|---|---|---|---|---|
| Exon 4 | (Arg-120→Trp) (CGG→TGG) | Heterozygous C→T transition | 5 (7.7) | rs141361080 | Possibly damaging | |
| (Pro-98→Leu) (CCG→CTG) | Heterozygous C→T transition | 1 (1.5) | rs144601717 | Possibly damaging | ||
| Exon 6 | (Ala-179→Thr) (GCA→ACA) | Heterozygous G→A transition Homozygous G→A transition | 33 (50.8) 15 (23.1) | rs12918952 | Benign | |
| Exon 7 | (Ala-251→Ser) (GCT→TCT) | Heterozygous G→T transversion | 1 (1.5) | Benign | ||
| (Pro-252→Ala) (CCT→GCT) | Heterozygous C→G transversion | 2 (3.1) | rs75559202 | Possibly damaging | ||
| (Glu-261→Lys) (GAG→AAG) | Heterozygous G→A transition | 3 (4.6) | Probably damaging | |||
| (Leu-216→Val) (CTA→GTA) | Heterozygous C→G transversion | 2 (3.1) | rs7201683 | Benign | ||
| (Arg-249→Arg) (CGC→CGA) | Heterozygous C→A transversion | 1 (1.5) | ||||
| Exon 8 | (Pro-282→Ala) (CCA→GCA) | Heterozygous C→G transversion | 4 (6.1) | rs3764340 | Probably damaging | |
| (Asp-286→Asn) (GAC→AAC) | Heterozygous G→A transition | 1 (1.5) | Benign | |||
| % | 23 vs 80 |