Study of Mutation Impact on Lysosomal Proteins using Computational Analysis

Duarte, Ana Joana; Amaral, Olga

http://hdl.handle.net/10400.18/5655

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Authors

Duarte, Ana Joana

Amaral, Olga

Abstract(s)

Reduction in time and cost involved in mutation analyses led to a rapid increase in the number of molecular lesions identified at the major loci involved in several diseases. Laboratories where DNA analyses of patients samples are carried out, are constantly confronted with the need to further investigate the causal nature of the mutations found. In many cases this type of approach may be useful to rapidly confer the genotyping results with a prognosis value. Although the establishment of a genotype/phenotype correlation cannot be fully accomplished through such a simple strategy, the multi-step approach used seems to be useful for predicting the causal potential of new, private or unique mutations, when the 3D structure is available. Thus, in silico analyses combining multiple information seem to be a fast, inexpensive, reliable tool, providing more accurate results, and thus allowing better predictions.