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Table 2 Results of mutation analyser web-based tools

From: A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever

 

Computational pathogenicity predictions

 

Prediction

Score 1

Score 2

Score 1&2 description

http://agvgd.iarc.fr/agvgd_input.php[8, 9]

Class C65

0.0

68.20

(GV, GD) Prediction ranges from C0-benign to C65- pathogenic

http://genetics.bwh.harvard.edu/pph2/ (HumVar Prediction) [10]

Benign

0.265

  

http://genetics.bwh.harvard.edu/pph2/ (HumDiv Prediction) [10]

Possibly damaging

0.876

  

http://sift.jcvi.org/[11]

Tolerated

0.1

3. 08

SIFT Score. Ranges from 0 to 1. The amino acid substitution is predicted damaging is the score is < = 0.05, and tolerated if the score is > 0.05.

http://provean.jcvi.org/seq_submit.php[12]

Neutral

-1.027

  

http://www.mutationtaster.org/[13]

Polymorphism

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