Table 3 In silico analysis to determine the causal relationship of the mutation and RETT syndrome

c.473C > T

p.T158 M

MDB

Disease causing

Probably damaging with a score of 1.000

Rettbase

c.808C > T

p. R270X

TRD-NLS

Disease causing

N/A

Rettbase

c.763C > T

p.R255X

TRD

Disease causing

N/A

Rettbase

c.502C > T,

p. R168X

Inter-domain region

Disease causing

N/A

Rettbase

c.1384-1385del GT

p.V462fs

C- term

Disease causing

N/A

Novel

c.763C > T

p.R255X

TRD

Disease causing

N/A

Rettbase

c.1205insT

p.402Lfs

C - term

Disease causing

N/A

Novel

c.(164–182)del 19

p.Q56fs

TRD-NLS, 3’UTR

Disease causing

N/A

Rettbase

c.(1148–1193)del 46

p.L383fs

C - term

Disease causing

N/A

Rettbase

c.717delC

p.A240fs

TRD

Disease causing

N/A

Novel

c.806delG

p. G269fs

TRD-NLS

Disease causing

N/A

Rettbase

c.1132_1207del77

A378fs

C – term

Disease causing

N/A

Novel

c.917G > A

p.R306H

TRD

Disease causing

Probably damaging with a score of 0.999

Rettbase