Table 4 In silico prediction scores for the c.706+531T>C and c.706+608A>C variants, as assessed by ESEfinder3.0
From: Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing
Variant | Position | SF2/ASF | SF2/ASF (IgM-BRCA1) | SC35 | SRp40 | SRp55 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
WT | mut | WT | mut | WT | mut | WT | mut | WT | mut | ||
c.706+531T>C | CATAGGG | 2.68 | 5.29 | 2.69 | 4.76 | – | – | – | – | – | – |
CCATAGG | – | – | – | – | – | – | 3.58 | 5.97 | – | – | |
c.706+608A>C | – | – | – | – | – | – | – | – | – | – | – |