5. According to the figure below, the APOE SNP positions are in Codon positions

Question

5. According to the figure below, the APOE SNP positions are in Codon positions 112 and 158 Nucleotide position 112 and 158 a. b. primer r6 taagcttG GCA CGG CTG TCC AAG GAG CTG CAG GCG SCG CAG GCC CGG CTG GGC53 E4 DNA E4 protein Ala Arg Leu Ser Lys Glu Leu Gin Ala Ala Gin Ala Arg Leu Gly 112 E2 E3 E4 GCG GAC ATG GAG GAC E4 Ala Asp Met Glu Asp Val Arg Gly Arg Leu Val Gin Tyr Arg Gly Glu Val Gin Ala Met ?? E2 GGC CGC CTG GTG CAG TAC CGC GGC GAG GTG CAG GCC ATG 113 5 E4 CTC GGC CAG AGC ACC GAG GAG CTG CGG GTOCdc CTC GCC TCC CAC CT.cac AAG CTG CGT 173 E4 Leu Gly Gln Ser Thr Glu Glu Leu Azg Val Arg Leu Ala Ser His Leu Arg Lys Leu Arg 158 E2 ?? E4 AAG CGG CTC CTC CGC GAT GCC GAT GAC CTG CAG E4 Lys Arg Leu Leu Arg Asp Ala Asp Asp Leu Gln Lys Arg Leu Ala Val Tyr Gln Ala Gly E3 E2 primer FA' CTG GCA GTG TAC CAG GCC GGG 233 Arg E4 GCgaattetgt 244 Fig. DNA and protein sequences of ampliied regions encoding common apoE isoforms and locations of Hhal cleavage sites. The ampliied EA nucleotide sequence (244 bp numbered to the right) is shown above the EA amino acid sequence. The sequences of amplification primers (F6 and F4', the reverse complement of F4) are also shown (upper case italics are apoE sequences, lower case italics are synthetic cleavage sites). Nucleo- tide substitutions that distinguish E2 and E3 soforms are shown above the E4 nucleotide sequence, and amino acid substitutions are shown below the E4 amino acid sequence (substitution sites at codons 112 and 158 are boxed). The sites for Hhal cleavage in the E4 nucleotide sequence are underlined and marked by arrows

Explanation / Answer

5. a. Codon positions 112 and 158.

SNP mutations result in substitution of arginine residues at 112 and 158 position in APOE protein.

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