Table 2 Results of the in silico modelling of all missense variants in B3GAT3
From: The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review
Missense variant | Location | Change in H-bonds | New clashes | Change in surface hydrophobicity | Possible effect on dimerisation | Overlap in Van Der Waals forces | Literature evidence | Total |
|---|---|---|---|---|---|---|---|---|
p.(Pro82Leu) | Substrate donor subdomain | / | / | / | / | + | / | 1 |
p.(Thr139Met) | Substrate donor subdomain | + (3) | + (8) | + | / | / | / | 3 |
p.(Pro140Leu) | Substrate donor subdomain | / | / | + | / | / | / | 1 |
p.(Gly223Ser) | Substrate acceptor subdomain | + (1) | + (6) | / | + | / | + | 4 |
p.(Leu224Gln) | Substrate acceptor subdomain | / | + (4) | / | + | + | / | 3 |
p.(Arg277Gln) | Substrate acceptor subdomain | / | + (2) | / | / | / | + | 2 |