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SUMMARY:Protein Sequence Variations involved in disease - a structural per
 spective - Dr David Burke\, (Department of Biochemistry)
DTSTART:20060623T102500Z
DTEND:20060623T111000Z
UID:TALK5085@talks.cam.ac.uk
CONTACT:Duncan Simpson
DESCRIPTION:Single nucleotide polymorphisms (SNPs) are the most common for
 m of sequence variation within the human genome and occur once every 1000 
 bases. There are now many databases which catalog these variations. It is 
 expected by analysing the sequence variations found within a population\, 
 associations can be made with disease which will accelerate the identifica
 tion of \ndisease genes and lead to a better understanding of the disease 
 process. I have used an automatic comparative modelling procedure to build
  models of the protein structure for over 7000 genes. I will describe an a
 nalysis of sequence variations which cause amino-acid sequence changes (no
 n-synonymous SNPs) within the coding regions of these genes. The first set
  of data\, \nderived from the OMIM database\, are known to cause Mendelian
  inherited diseases. The second set\, from dbSNP\, currently have no annot
 ated link to a \ndisease. In total there are 24\,000 nsSNPs. I have applie
 d structure-based as well as sequence-based tools to predict which of thes
 e sequence changes are likely to either disrupt the structure of the prote
 in or interfere with the function or interactions of the protein. Some of 
 these predictions are able distinguish disease causing mutations from thos
 e mutations which are thought to be have a neutral affect. I will give exa
 mples of mutations in genes which are predicted to be deleterious and may 
 have a role in common human diseases.
LOCATION:Emmanuel College Cambridge
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