Determination of mutation patterns in human ornithine transcarbamylase precursor.

OBJECTIVE: The ornithine transcarbamylase is a mitochondrial matrix homotrimeric enzyme, whose deficiency is the most common genetic defect of the urea cycle and an X-linked semidominant disorder. To understand its mutation pattern is very helpful for managing its clinical manifest and outcome.
METHODS: The amino-acid pair predictability is used to transfer the symbolized human ornithine transcarbamylase and its 117 missense point mutants to scalar data and classify the amino-acid pairs as predictable and unpredictable in order that we can analyse the mutation pattern in scalar data domain rather than symbol domain.
RESULTS: The results show that the mutation is highly likely to occur at the unpredictable amino-acid pairs, and the mutation has the trend to make an amino-acid pair approach predictable.
CONCLUSION: The results provide insight on mutation from the viewpoint based on random mechanism.