LIFESCI 2G03 Lecture Notes - Lecture 4: Start Codon, Base Pair, Cystic Fibrosis
23 Mar 2018
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Document Summary
Non-sense mutation a snp can change one nucleotide, then that becomes a stop codon. If it happens towards the end, might make no difference. Nucleotide binding domain - its going to be very disruptive. Could also be disruptive if you end up with hydrophobic protein instead of hydrophilic and vice versa. A shift in reading the sequence of codons, they have to be read in the correct sequence for the right amino acids. Shift will cause the next amino acids to change. Inserting 3 or deleting 3 does not change the reading frame. Cause introns to be retain, so no longer mrna; this inserts extra amino acids and may result in shorter protein due to out of frame stop codon. Causes exons to be removed, shorter protein because amino acids missing. They all prevent the production of the normal cftr protein, mutations are in the coding exons or change the exons (splicing)
