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Table 1 Variants predicted to compromise TRIO-RAC1 binding interface (NCBI Reference Sequence for Trio: NM_007118.4)

From: Detection of autism spectrum disorder-related pathogenic trio variants by a novel structure-based approach

Prediction

Variant

Base replacement

Effect on binding

∆∆Gstability (kCal/mol)

∆∆Gbinding (kCal/mol)

Probability of variant [38]

Deleterious

E1299W

GAG→TGG

Disrupts H-bond with Y32 and T35 and V36 backbone

0.46

4.24

0.00037

Deleterious

C1387W

TGC→TGG

Bulky residue instead of small polar on the interaction interface

−1.71

16.22

0.00388

Deleterious

T1430W

ACG→TGG

Bulky residue instead of small polar on the interaction interface

−1.06

6.82

0.00076

Deleterious

A1464W

GCC→TGG

Bulky residue instead of small hydrophobic on the interaction interface

−0.12

14.12

0.00041

Benign

T1394A

ACT→GCT

TRIO-RAC1 binding interface, DH1 domain

0.55

1.90

0.03483