Tay Sachs disease is caused by a type mutation called frameshift mutation. It alters all protein sequence downstream of the mutation site.
A mutation is any alteration in the genetic material (DNA) of the genome of a particular organism.
A frameshift mutation is a type of mutation capable of changing all the Open Reading Frame (ORF) of a protein, thereby altering its functional and structural properties.
Tay Sachs disease is caused by a frameshift mutation in the HEXA gene located on chromosome 15, which leads to a defective protein and faulty cellular transport of beta-hexosaminidase.
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