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Analysis of the functional significance of missense mutations

These websites are useful when assessing whether a mutation that does not result in protein truncation is likely to be pathogenic or not.


Prediction of the functional effect of human missense mutations


Another website analysing the likely pathogenicity of missense mutations that may ormay not give similar results to those produced by PolyPhen.

Align GVGD

More difficult to use, as it requires prior alignment of amino acid sequences.

RCSB Protein Data Bank

Source of protein coordinate data for 3D protein modelling.

Human splice site prediction tool

Provided by the Berkeley Drosophila Genome Project (California, USA)

ESE Finder

To predict effects of mutations on any portential exonic splice enhancer sequences, necessary for splicing factor binding. Based at the Cold Spring Harbor Labs in the USA.

For more details and a user's guide on how to make the most efficient use of these databases, see Part 3 of Essential Medical Genetics 6th Edition