Mutations can result in a different amino acid sequence in the encoded polypeptide
A mutation changes the base sequence of a gene. Because bases code for amino acids, a changed sequence can produce a different chain of amino acids — a different polypeptide.
Real World
In cystic fibrosis, a three-base deletion removes phenylalanine at position 508 of the CFTR protein, causing it to misfold so that chloride ion channels never reach the cell membrane.
Exam Focus
Explain the full chain: changed base sequence → changed amino acid → changed protein shape → changed function.
Evaluation Scaffold
A four-step framework for high-quality evaluation. Use this for 'assess', 'evaluate', and 'to what extent' questions.
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