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Table 4 Effect of c.24G>T mutation on calculated exonic splicing enhancer motifs scores.

From: PIN1 gene variants in Alzheimer's disease

SR protein

c.24G

c.24T

SF2/ASF (1)

Score = 2.02

0

SF2/ASF (2)

Score = 4.42

↓ Score = 3.75

SF2/ASF (IgM-BRCA1)

Score = 2.758

↑ Score = 4.13

SC35 (1)

Score = 2.93

0

SC35 (2)

0

↑ Score = 3.54

SRp40

0

Score = 2.88

SRp55

Score = 3.02

↑ Score = 3.83

  1. Only motifs distinguishing wild type DNA sequence and the one with mutation c.24G>T, with scores above the thresholds, are presented.