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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