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Table 3 Deletions detected in exon 11 of the KIT gene in Syrian GIST patients and in silico prediction of their effect on protein structure and function

From: Bioinformatic analysis of KIT juxtamembrane domain mutations in Syrian GIST patients: jigsaw puzzle completed

Genomic change

CDS change

Protein change

Frequency

MutationTaster

g.74425_74436del12

c.1651_1662del12

p.(Pro551_Glu554del)

1

Disease causing (0.947)b

g.74426_74479del54

c.1652_1705del54

p.(Pro551_Val569delinsLeu)

1

Disease causing (0.999)

g.74431_74451del21

c.1657_1677del21

p.(Tyr553_Val559del)

1

Disease causing (0.999)

g.74443_74448del6

c.1669_1674del6

p.(Trp557_Lys558del)

14

Disease causing (0.999)

g.74444_74449del6

c.1670_1675del6

p.(Trp557_Val559delinsPhe)

2

Disease causing (0.986)

g.74446_74451del6

c.1672_1677del6

p.(Lys558_Val559del)

1

Disease causing (0.999)

g.74480delTa

c.1706delT

p.(Tyr570ThrfsTer2)

1

Disease causing (1)

  1. aVariation is novel. bPrediction probability, a value close to 1 indicates a high ā€œsecurityā€ of the prediction