The type of mutation is mostly
point mutation that includes mostly substitutions and
deletions.
Mutations that affect the alpha
subunit of sodium potassium pump i.e alpha2 and 3 disrupt its
function and this has been implicated in two distinct human
diseases:one is rapid-onset dystonia Parkinsonism and the other is
familial hemiplegic migraine.
Mutation in the regulatory element
of the sodium potassium pump i.e the C-terminal region that
contains the conserved tyrosine leads to its disruption in
function.