My research revolves around screening of BRCA1 gene in Familial Breast cancer patients in Pakistan. i just found a missense novel mutation in one of my families. Is there any way to find out how it effects the over all structure of protein? any bioinformatic tools that i can use for that? Thanks in advance
I-Mutant server - is a tool based on support vector machine used to predict the stability changes on mis-sense novel mutations. http://folding.biofold.org/i-mutant/i-mutant2.0.html
Ployphen2.0 - is based on neural network algorithm to measure the stability changes upon mutation. http://genetics.bwh.harvard.edu/pph2/
The other thing to consider is if the mutation results in a conservative or non-conservative amino acid change. Is the missense mutation non-conservative, for example, Gly to Asp mutation? Which would likely effect the structure more then a conservative mutation where the chemical properties of the amino acid are preserved.
I would test Quarks, I-tasser and Rosetta force fields for structure prediction. But there are WEB server that can estimated Delta-G variation upon mutation.
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