Additional file 1. List of variants subjected to structural analysis, with details of protein modelling, effects observed and contribution of evidence to final variant classification.
Note: C-alph (RMSD values for pairwise C-Alpha atom superposed by sequence alingments); N-loop (N-terminal loop superposed by 9 residues); β region (the first β-sheet region superposed by 7 residues);
Background and Objectives The postural instability and gait disorder (PIGD) and tremor dominant (TD) subtypes of Parkinson’s disease (PD) show different patterns of alterations in functional connectiv
A comparative analysis of cavities enclosed in a tertiary structure of proteins and interfaces formed by the interaction of two protein subunits in obligate and non-obligate categories (represented by