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Table 2 GNE mutations and functional effect predictions

From: Different electrophysiology patterns in GNE myopathy

Variants

Amino acid substituent

gnomAD frequency

SIFT prediction

Polyphen-2 prediction

MutationTaster prediction

CADD score

PhyloP

PhastCons

c.2054T > C

p.Val685Ala

0

Tolerated

Benign

Disease causing

23.4

4.117

1

c.424G > A

p.Gly142Arg

0

Deleterious

Probably damaging

Disease causing

26.8

5.161

1

c.944T > C

p.Phe315Ser

0

Tolerated

Benign

Disease causing

23.9

4.291

1

c.115C > T

p.Arg39*†

2/251278

Deleterious

Benign

Disease causing

37

4.014

1

c.620A > T

p.Asp207Val†

14/282714

Deleterious

Benign

Disease causing

23.8

2.781

1

  1. The two mutations were previously reported as disease-causing