GLB1 F107L
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Description
F107L (wild type in turquoise, mutant in coral) changes a buried residue to one with a differnt shape destabilising the neighbourhood (+20 kcal/mol). The residue is 14 Å away from galactose product, but is in contact with residues flanking the active site. The nearby homozygous gnomAD variant R109W, faces outwards and is not destabilising.
Differing atoms in Phenylanine (F/Phe) highlighted in red
Differing atoms in Leucine (L/Leu) highlighted in red
References
Structure 3THC was reported in Ohto U, Usui K, Ochi T, Yuki K, Satow Y, Shimizu T (2012) Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases. J. Biol. Chem. 3 1801-12