Mutation effect on proteins domain
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3.8 years ago
yoosefyud ▴ 40

Hello Biostar community We have analysed ABCD1 gene in ALD patients and 3 new novel mutations has been identified. Can you please introduce me how can i know which protein domain is affected by these mutations? Also, How can i know its detrimental effect on that domain?

sequencing Protein • 1.0k views
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3.8 years ago

vep https://www.ensembl.org/Tools/VEP using " HGVS notations"

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Thanks a lot. It seems it works like polyphen or SIFT databases . I want to know exact place of this mutation on ABCD1 protein domains and also its detrimental effect on that domain and use these data in my article. Can i use this database for this matter? Also i will be so pleaded if you introduce me a similar article which has used bioinformatic tools for this kind of predictions.

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