Table 2 Prediction of protein-stability changes due to single amino-acid substitutions in CHN1.

From: Identification of a novel CHN1 p.(Phe213Val) variant in a large Han Chinese family with congenital Duane retraction syndrome

AA change

Inheritance

I-Mutant 2.0

mCSM

SDM

DUET

Prediction

L20F

AD

0.26

− 1.695

− 1.39

− 1.95

Destabilizing

I126M

AD

− 0.35

− 1.066

− 0.52

− 1.01

Destabilizing

P141L

AD

− 0.61

− 0.807

2.74

0.067

–

Y143H

AD

− 0.03

− 1.526

− 0.97

− 1.421

Destabilizing

Y148F

AD

− 0.33

− 1.118

0.45

− 0.707

Destabilizing

F213V

AD

− 3.09

− 1.89

− 2.33

− 2.13

Destabilizing

A223V

AD

− 0.28

− 0.383

0.1

− 0.166

Destabilizing

G228S

AD

− 0.87

− 1.464

− 3.47

− 1.789

Destabilizing

P252Q

AD

− 1.13

− 1.123

0.13

− 0.763

Destabilizing

P252S

AD

− 0.61

− 1.456

0.45

− 1.041

Destabilizing

E313K

AD

− 2.23

− 0.893

− 0.77

− 0.703

Destabilizing

  1. Two-stage prediction classification: destabilizing (< 0 kcal/mol), stabilizing (> 0 kcal/mol); AD autosomal dominant; AA amino acid; predicted results were decided by more than two software analyses; RefSeq of CHN1: NP_001813.1.
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