Table 3 In silico prediction scores for the splice sites of two deep intronic variants assessed in this study by Alamut® Visual
From: Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing
Variant | Position | 3′/5′ | SSFL (0–100) | Max EntScan (0–12) | NNSPLICE (0–1) | GeneSplicer (0–21) | Branch points (0–100) | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
WT | Mut | WT | Mut | WT | Mut | WT | Mut | WT | Mut | |||
c.706+531T>C | c.706+534 | 3′ | – | - | 7.6 | 8.1 | 1.0 | 1.0 | – | – | – | – |
c.706+530 | 3′ | – | – | – | – | – | – | – | – | 67.7 | 70.9 | |
c.706+532 | 3′ | – | – | – | – | – | – | – | – | 52.7 | 59.3 | |
c.706+608A>C | c.706+601 | 5′ | – | – | – | – | 0.7 | 0.8 | – | – | – | – |
c.706+613 | 3′ | – | – | – | – | – | – | – | – | 66.5 | 69.7 | |
c.706+614 | 3′ | – | – | – | – | – | – | – | – | 46.3 | 48.8 | |