The mutations are located in both of these domains.
Most of these mutations are located in DEAD domain, suggesting importance of this domain.
However, more than half of reported disease-related mtDNA point mutations are located within the tRNA genes.
As expected, most mutations are located in the VSDs and the pore domain, which corroborate the functional disturbance associated with the various conditions.
By mapping the Nav1.1-related mutations to the Nav1.7 structure model, we identified that most mutations are located in the VSDs and the pore domain (Fig. 5A).
Assuming that the great majority of those accessions are indeed aromatic, the mutations are located either in the unsequenced coding part or in the promoter.
The mutations are located in a different part of the gene from those described in the related condition familial periodic paralysis.
All mutations are located on the surface of the protein and are highly conserved.
Assume that the m mutations are located at positions x1, x2,.., xm in the gene.
All novel mutations are located in CYP21 protein residues fully conserved throughout mammalian species.
The mutations are located in regions with large variations in G+C content (20 75%).
