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Table 1 ASMT mutations identified in 361 patients with ID and 440 controls.

From: Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with Intellectual Disability

Variant

ID Patients (n = 377)

Controls (n = 440)

Functional prediction (Polyphen/SIFT)

ID only

   

N13H

1

0

Benign/tolerated

N17K*

1

0

Possibly damaging/tolerated

V171M

1

0

Possibly damaging/affects protein function

IVS5+2T > C

1

0

Damaging

IVS7+1G > T

1

0

Damaging

E288D

2

0

Benign/tolerated

ID and Controls

   

L298F

1

2

Possibly damaging/affects protein function

Controls only

   

E61Q

0

1

Benign/tolerated

D210G

0

1

Probably damaging/affects protein function

K219R

0

1

Benign/tolerated

P243L

0

1

Probably damaging/affects protein function

C273S

0

1

Probably damaging/affects protein function

R291Q

0

1

Probably damaging/tolerated

  1. * N17K variant is rs17149149 and is mentioned in the SNP database at an allelic frequency of 6.7% in the Han Chinese population