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Table 3 In silico structural analysis of HEXB mutations: Leu254Ser and Cys551Tyr

From: Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients

 

Structural analysis

Dimerization capability

I-TASSER

SWISS-MODEL (QMEAN)

MutationTaster

SWISS-MODEL (QSQE)

COTH

Leu254

helix

template: 1o7a

–

–

yes

Ser254

coil

−0.77

helix loss (253–258)

1

yes

Cys551

coil

template: 1o7a

–

–

yes

Tyr551

coil

−0.67

disulfide loss (551)

1

yes

Ser254-Tyr551

–

–

–

–

yes

  1. QMEAN, the Qualitative Model Energy Analysis; QSQE, quaternary structure quality estimate