As I said I am working on eye disorders and I found a mutation in a gene which does minor alteration that is a change from leucine to isoleucine, which does not affect the function of protein. Instead I am suspecting at the alteration in regulatory elements. Suggest some Insilico tools to analyse the same. I would like to know computation tools, to analyse change in the regulatory elements due to point mutations. I hope you got my point. I have found a point mutation, which is a causative for an eye disease, the change at aminoacid level does not affect the protein function. Hence wish to know whether it alters the transcription by affecting the regulatory elements and also in post transcription, and whether it affects the stability or it activates any long non coding RNA. Could anyone suggest some online tool to analyze these? And also to pick up cell specific gene expression.
An eye disorder very frequent and unknowed of the great majority of physician s is binocular dysfonction from Ehlers-Danlos disease (EDS). The symptoms are visual fatigue and diplopy. The mechanism is propioception disorder from hereditary change of biomechanical characteristics of connective tissue. See my site claude.hamonet.free.fr
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