Determination of mutation patterns in human ornithine transcarbamylase precursor.

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