Wild type SSL2 reference sequence from amino acid 621 through 680 621 Lys Met Gly Lys Pro Phe Ile Tyr Gly Ser Thr Pro Gln Gln Glu Arg Met Asn Ile Leu 1861 AAA ATG GGA AAA CCA TTT ATT TAT GGT TCC ACA CCA CAA CAA GAG CGT ATG AAC ATT CTG 641 Gln Asn Phe Gln Tyr Asn Asp Gln Ile Asn Thr Ile Phe Leu Ser Lys Val Gly Asp Thr 660 1921 CAA AAT TTC CAG TAC AAT GAC CAA ATC AAT ACC ATA TTT CTA TCA AAA GTT GGT GAT ACT 1980 661 Ser Ile Asp Leu Pro Glu Ala Thr Cys Leu Ile Gln Ile Ser Ser His Tyr Gly Ser Arg 1981 TCC ATC GAT TTA CCA GAA GCT ACC TGT TTA ATT CAA ATA TCT TCG CAC TAT GGG TCT CGT Candidate mutant SSL2 sequence from amino acid 621 through 680 621 Lys Met Gly Lys Pro Phe Ile Tyr Gly Ser Thr Pro Gln Gln Glu Arg Met Asn Ile Leu 1861 AAA ATG GGA AAA CCA TTT ATT TAT GGT TCC ACA CCA CAA CAA GAG CGT ATG AAC ATT CTG 641 Arg Asn Phe Gln Tyr Asn Asp Gln Ile Asn Thr Ile Phe Leu Ser Lys Val Gly Asp Thr 1921 CGA AAT TTC CAG TAC AAT GAC CAA ATC AAT ACC ATA TTT CTA TCA AAA GTT GGT GAT ACT 640 1920 661 Ser Ile Asp Leu Pro Glu Ala Thr Cys Leu Ile Gln Ile Ser Ser His Tyr Gly Ser Arg 1981 TCC ATC GAT TTA CCA GAA GCT ACC TGT TTA ATT CAA ATA TCT TCG CAC TAT GGG TCT CGT 680 2040 640 1920 660 1980 680 2040 The amino acid is not changed, but the mutation in the DNA sequence may lead to changes in protein expression by changing the sequence of the transcribed mRNA. A very small side chain is replaced with a side chain that contains only a hydrogen atom; this would likely have dramatic effects on protein folding. A polar amino acid is mutated to a positively charged amino acid causing a partial charge reversal that may affect enzymatic function if it falls in an active site. An early stop codon was introduced that truncates the protein and likely eliminates important functional domains of the protein.
Wild type SSL2 reference sequence from amino acid 621 through 680 621 Lys Met Gly Lys Pro Phe Ile Tyr Gly Ser Thr Pro Gln Gln Glu Arg Met Asn Ile Leu 1861 AAA ATG GGA AAA CCA TTT ATT TAT GGT TCC ACA CCA CAA CAA GAG CGT ATG AAC ATT CTG 641 Gln Asn Phe Gln Tyr Asn Asp Gln Ile Asn Thr Ile Phe Leu Ser Lys Val Gly Asp Thr 660 1921 CAA AAT TTC CAG TAC AAT GAC CAA ATC AAT ACC ATA TTT CTA TCA AAA GTT GGT GAT ACT 1980 661 Ser Ile Asp Leu Pro Glu Ala Thr Cys Leu Ile Gln Ile Ser Ser His Tyr Gly Ser Arg 1981 TCC ATC GAT TTA CCA GAA GCT ACC TGT TTA ATT CAA ATA TCT TCG CAC TAT GGG TCT CGT Candidate mutant SSL2 sequence from amino acid 621 through 680 621 Lys Met Gly Lys Pro Phe Ile Tyr Gly Ser Thr Pro Gln Gln Glu Arg Met Asn Ile Leu 1861 AAA ATG GGA AAA CCA TTT ATT TAT GGT TCC ACA CCA CAA CAA GAG CGT ATG AAC ATT CTG 641 Arg Asn Phe Gln Tyr Asn Asp Gln Ile Asn Thr Ile Phe Leu Ser Lys Val Gly Asp Thr 1921 CGA AAT TTC CAG TAC AAT GAC CAA ATC AAT ACC ATA TTT CTA TCA AAA GTT GGT GAT ACT 640 1920 661 Ser Ile Asp Leu Pro Glu Ala Thr Cys Leu Ile Gln Ile Ser Ser His Tyr Gly Ser Arg 1981 TCC ATC GAT TTA CCA GAA GCT ACC TGT TTA ATT CAA ATA TCT TCG CAC TAT GGG TCT CGT 680 2040 640 1920 660 1980 680 2040 The amino acid is not changed, but the mutation in the DNA sequence may lead to changes in protein expression by changing the sequence of the transcribed mRNA. A very small side chain is replaced with a side chain that contains only a hydrogen atom; this would likely have dramatic effects on protein folding. A polar amino acid is mutated to a positively charged amino acid causing a partial charge reversal that may affect enzymatic function if it falls in an active site. An early stop codon was introduced that truncates the protein and likely eliminates important functional domains of the protein.
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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Transcribed Image Text:Wild type SSL2 reference sequence from amino acid 621 through 680
621 Lys Met Gly Lys Pro Phe Ile Tyr Gly Ser Thr Pro Gln Gln Glu Arg Met Asn Ile Leu 640
1861 AAA ATG GGA AAA CCA TTT ATT TAT GGT TCC ACA CCA CAA CAA GAG CGT ATG AAC ATT CTG 1920
641 Gln Asn Phe Gln Tyr Asn Asp Gln Ile Asn Thr Ile Phe Leu Ser Lys Val Gly Asp Thr 660
1921 CAA AAT TTC CAG TAC AAT GAC CAA ATC AAT ACC ATA TTT CTA TCA AAA GTT GGT GAT ACT 1980
661 Ser Ile Asp Leu Pro Glu Ala Thr Cys Leu Ile Gln Ile Ser Ser His Tyr Gly Ser Arg 680
1981 TCC ATC GAT TTA CCA GAA GCT ACC TGT TTA ATT CAA ATA TCT TCG CAC TAT GGG TCT CGT 2040
Candidate mutant SSL2 sequence from amino acid 621 through 680
621 Lys Met Gly Lys Pro Phe Ile Tyr Gly Ser Thr Pro Gln Gln Glu Arg Met Asn Ile Leu
1861 AAA ATG GGA AAA CCA TTT ATT TAT GGT TCC ACA CCA CAA CAA GAG CGT ATG AAC ATT CTG
641 Arg Asn Phe Gln Tyr Asn Asp Gln Ile Asn Thr Ile Phe Leu Ser Lys Val Gly Asp Thr
1921 CGA AAT TTC CAG TAC AAT GAC CAA ATC AAT ACC ATA TTT CTA TCA AAA GTT GGT GAT ACT
661 Ser Ile Asp Leu Pro Glu Ala Thr Cys Leu Ile Gln Ile Ser Ser His Tyr Gly Ser Arg
1981 TCC ATC GAT TTA CCA GAA GCT ACC TGT TTA ATT CAA ATA TCT TCG CAC TAT GGG TCT CGT
640
1920
660
1980
680
2040
The amino acid is not changed, but the mutation in the DNA sequence may lead to changes in protein expression by changing the sequence of the transcribed mRNA.
A very small side chain is replaced with a side chain that contains only a hydrogen atom; this would likely have dramatic effects on protein folding.
A polar amino acid is mutated to a positively charged amino acid causing a partial charge reversal that may affect enzymatic function if it falls in an active site.
An early stop codon was introduced that truncates the protein and likely eliminates important functional domains of the protein.
Expert Solution
Step 1
The term "Mutation" can be defined as the random and sudden inheritable changes in the DNA sequence of an organism. It may be caused by mistakes during cell division, or they may be caused by exposure to DNA-damaging agents in the environment. Mutations can be harmful, beneficial, or neutral.
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