Molecular modelling analysis:
Molecular modelling analysis was performed to predict the effect of the
mutation found c.662G>T = p.Gly221Val mutation on the SGCE
protein structure. The I-TASSER server (Yang and Zhang., 2015)) was used
to predict the 3D structure of the SGCE protein. The PyMol v1.7.4
software was used to mutate the 221 amino acid. Then, both proteins
(native and mutated) were minimized using Yasara Energy Minimization
server (Krieger et al (2009). The change in protein stability upon
p.Gly221Val mutation was estimated using CUPSAT (Parthiban et al.,
2006), mCSM (Pires et al., 2014), SDM (Pandurangan et al., 2017), DUET
(Pires et al., 2014) and DeepDDG programs (Cao et al., 2019). The YASARA
v20.8.23 software (Krieger and Vriend ., 2014) was used for protein
structure visualisation.