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Table 1 In silico prediction of splice score changes of the natural splice site

From: Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing

  

Splicing prediction

Prediction Tool

Threshold

Acceptor Site

Donor Site

  

c.611-16 _611-6del c.611-37_611-38ins

c.2012 + 4_2012 + 7del

SSF

≥70

87.40 ⇒ —

87.36 ⇒ —

MaxEnt

≥0

7.78 ⇒ —

10.47 ⇒ 2.39 (-77.2%)

NNSPLICE

≥0.4

0.93 ⇒ —

1.00 ⇒ —

GeneSplicer

≥0

n.a.

2.26 ⇒ —

  1. n.a. not analysed, SSF SpliceSiteFinder-like [39], MaxEnt MaxEntScan [40], NNSPLICE Splice Site Prediction by Neural Network [41], GeneSplicer [42]; Threshold: minimal value to recognise a putative splice site; - splice site abolished
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BMC Medical Genetics

ISSN: 1471-2350

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