G-LO37 Identify the consequences of mutations in different regions of a gene. The image below represents two strands of DNA: the top one corresponds to a healthy individual, and the bottom one of a sibling potentially affected with a disease due to genetic mutations Mutation 1 First letter A U C A G U UUU UUC Phe UUG} Leu CUU CUC CUA CUG Leu AUU AUC lle AUA AUG Met GUU GUC GUA GUG Val Mutation 2 500 AGG 500 GGG Second letter C UCU UCC UCA UCG CCU CCC CCA CCG ACU ACC ACA ACG GCU GCC GCA GCG Ser - Pro Thr Ala A Mutation 4 1235 ATT 1236 CAU CAC J His CAG} Gin The change in amino acid will be from ILE to PHE Tyr TTT The change will be from a STOP codon to LYS GACAsp GAG Glu Select all that applies about Mutation 4 (position +1235, EXON): Mutation 3 UAU UGU UAC T UGC Cys UAA Stop UGA Stop A UAG Stop UGG Trp CGU CGC CGA CGG It will produce a protein with a different amino acid for this codon G GGU GGC GGA GGG Ser AACAsn AGC Se AAGLYS AGA Arg 1536 It will produce a protein that is longer than in the healthy individual G 1536 C Arg Exons are spliced out in immature mRNA so the mutation will have no effect Gly Healthy 6 Individual 5 Affected brother 040כ 040כ 040כ 040כ G Third letter

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Mitochondrial Mutations

A mitochondrion is a cellular organelle that serves as the site for cellular respiration and energy production (ATP or Adenosine Triphosphate). It is a double-membrane-bound organelle and is only present in eukaryotic cells.