Many of the known mutations result in no expression of mucolipin1.

Even the presence of known mutations in their families was not associated with good adherence to recommended screening practices.

There are over 40 known mutations at present.

In all, there are about 80 known mutations, grouped into three main types:

There are actually at least thirty-two known primary mutations established among budgerigars.

If there is a known mutation in the family, prenatal testing is available.

In the absence of a known mutation in the family, a negative test result is not informative.

It is important, however, to discuss genetic, medical, and psychological implications of a negative result in a family with a known mutation as well.

A known mutation may also be of use for affected individuals when they decide to start a family as it allows them reproductive choices.

There are two known mutations in this protein, both affecting the same residue, R1086.