The GNAI1 gene encodes a protein GNAI1 which contributes to the development and proper functioning of a wide range of tissues including central nervous system. More than 30 variants affecting the GNAI1 gene sequence have been reported so far, however, not all have deleterious effect on it.
The pathogenic or likely pathogenic mutations are located predominantly in specific sites (mutation clusters). In healthy individuals these structural sites (G1 to G5 motifs) form a structural “pocket” for binding other molecules which are essential components for proper cell functioning. Therefore, the alterations of the important sites in the GNAI1 gene sequence result in the manifestation of GNAI1-related phenotypic features.
GNAI1