What type of mutation that impacts splicing is a significant

What type of mutation that impacts splicing is a significant contributor to human disease?

Solution

Disruptions in splicing are major contibutor of human diseases.Most genes in higher eukaryotes are composed of introns (non coding segments) and exons (coding segments). The majority of human intron removals ae catalyzed by a large and dynamic ribonucleoprotein (RNP) complex called the spliceosome.This process involves two sequential transesterification reactions which ligate the exons and release the intron as a lariat.

Alternate splicing which allows for the productioin of many proteins from a single genomic locous.This greatly augments the repertorie of the protein.This greatly augments the repertoire of proteins that can be produced by a given gene and plays an important role in evolution,development and disease.