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Table 2 Substitutions 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

SIFTb

PolyPhen-2c

fathmmd

MutationTaster

g.74423Aā€‰>ā€‰G

g.74424Aā€‰>ā€‰G

c.1649Aā€‰>ā€‰G

c.1650Aā€‰>ā€‰G

p.(Lys550Arg)

12

Deleterious (0)

Probably damaging (0.996)

Cancer promoting (āˆ’ā€‰6.07)

Disease causing (0.999)f

g.74431Tā€‰>ā€‰Ca

c.1657 Tā€‰>ā€‰C

p.(Tyr553His)

1

Deleterious (0)

Probably damaging (1)

Cancer promoting (āˆ’ā€‰6.63)

Disease causing (0.999)

g.74437Gā€‰>ā€‰A

c.1663Gā€‰>ā€‰A

p.(Val555Ile)

1

Tolerated (0.67)

Benign (0.039)

Cancer promoting (āˆ’ā€‰5.68)

Disease causing (0.999)

g.74443Tā€‰>ā€‰G

c.1669Tā€‰>ā€‰G

p.(Trp557Gly)

1

Deleterious (0)

Probably damaging (1)

Cancer promoting (āˆ’ā€‰6.26)

Disease causing (0.999)

g.74455Gā€‰>ā€‰A

c.1681Gā€‰>ā€‰A

p.(Glu561Lys)

1

Deleterious (0)

Possibly damaging (0.875)

Cancer promoting (āˆ’ā€‰6.39)

Disease causing (0.999)

g.74468Gā€‰>ā€‰A

c.1694Gā€‰>ā€‰A

p.(Gly565Glu)

1

Deleterious (0)

Probably damaging (1)

Cancer promoting (āˆ’ā€‰7.20)

Disease causing (0.999)

g.74501Tā€‰>ā€‰C

c.1727Tā€‰>ā€‰C

p.(Leu576Pro)

1

Deleterious (0)

Possibly damaging (0.627)

Cancer promoting (āˆ’ā€‰6.92)

Disease causing (0.999)

g.74515Aā€‰>ā€‰Ga

c.1741 Aā€‰>ā€‰G

p.(Lys581Glu)

1

Deleterious (0.01)

Possibly damaging (0.811)

Cancer promoting (āˆ’ā€‰6.29)

Disease causing (0.999)

g.74531Gā€‰>ā€‰A

c.1757Gā€‰>ā€‰A

p.(Arg586Lys)

1

Deleterious (0)

Possibly damaging (0.88)

Passengere (āˆ’ā€‰1.74)

Disease causing (0.999)

  1. aVariation is novel. bSIFT: 0ā€‰ā‰¤ā€‰scoreā€‰<ā€‰0.05, deleterious; 0.05ā€‰<ā€‰scoreā€‰ā‰¤ā€‰1, tolerated. cPolyPhen-2: 0ā€‰ā‰¤ā€‰scoreā€‰ā‰¤ā€‰0.14, benign; 0.15ā€‰ā‰¤ā€‰scoreā€‰ā‰¤ā€‰0.84, possibly damaging; 0.85ā€‰ā‰¤ā€‰scoreā€‰ā‰¤ā€‰1, probably damaging. dfathmm: scoreā€‰<ā€‰ā€‰āˆ’ā€‰3, cancer promoting; scoreā€‰>ā€‰ā€‰āˆ’ā€‰3, passenger. e ā€œCancer promotingā€ when the less stringent default prediction threshold (āˆ’ā€‰0.75) was used. fPrediction probability, a value close to 1 indicates a high ā€œsecurityā€ of the prediction