A reference segment of DNA has the following sequence: GCTCACCATGG. The fourth nucleotide is changed to an A in a particular genetic disease. How would this mutation be denoted?

Question

Quizplus · Accepted Answer

The correct notation for a single nucleotide change is to list the position of the nucleotide, the original nucleotide, a greater-than symbol (>), and then the new nucleotide. In this case, the fourth nucleotide (C) is changed to an A, so it is denoted as 4C>A.

A Reference Segment of DNA Has the Following Sequence: GCTCACCATGG