Determination of mutation patterns in human ornithine transcarbamylase precursor.
J Clin Monit Comput
; 23(1): 51-7, 2009 Feb.
Article
in En
| MEDLINE
| ID: mdl-19205909
ABSTRACT
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.
Full text:
1
Database:
MEDLINE
Main subject:
Ornithine Carbamoyltransferase
/
Algorithms
/
Pattern Recognition, Automated
/
DNA Mutational Analysis
/
Sequence Analysis, DNA
/
Sequence Analysis, Protein
Type of study:
Prognostic_studies
Language:
En
Year:
2009
Type:
Article