HLTB22H3 Lecture Notes - Lecture 1: Uvrabc Endonuclease, Electromagnetic Radiation, Thymine

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Mutations and effect on gene expression: dna codes for a normal gene. Transcribed and translated to make a normal protein physical appearance of the gene. Will result in a normal phenotype normal functioning of that protein: mutational effects can result in either an abnormal protein or a protein that is totally absent. Folding of the protein after the gene has been modified, means the protein will have altered physical or chemical properties affecting binding. Point mutations: literally are a mutation at one point/nucleotide, various categories. Change of one nucleotide pair to another (a-t to g-c) Reversion of the base pair (c-g to g-c) Entire amino acid has changed in response to a point mutation. Amino acid changes due to point mutation but the amino acids the(cid:373)sel(cid:448)es are(cid:374)"t that (cid:272)he(cid:373)i(cid:272)ally dissi(cid:373)ilar, so (cid:374)o (cid:272)ha(cid:374)ge to phe(cid:374)otype. Poi(cid:374)t (cid:373)utatio(cid:374) o(cid:272)(cid:272)urs (cid:271)ut the a(cid:373)i(cid:374)o a(cid:272)id does(cid:374)"t (cid:272)ha(cid:374)ge due to wobble hypothesis.

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