A mutation that results in a G replaced by an T, 3 base pairs before the start of an exon is denoted as :NM_000492.3:c.489+3G>TNM_000492.3:c.489/486G>TNM_000492.3:c.489-3G>TNM_000492.3:c.489G>T
Question
A mutation that results in a G replaced by an T, 3 base pairs before the start of an exon is denoted as :NM_000492.3:c.489+3G>TNM_000492.3:c.489/486G>TNM_000492.3:c.489-3G>TNM_000492.3:c.489G>T
Solution
The correct notation for a mutation that results in a G replaced by a T, 3 base pairs before the start of an exon is: NM_000492.3:c.489-3G>T.
Here's why:
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NM_000492.3: This is the RefSeq accession number, which identifies the specific gene where the mutation is located.
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c.489: This refers to the coding DNA reference sequence. The number is the position of the base pair in the coding sequence.
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-3: This indicates that the mutation is located 3 base pairs before the start of the exon (in the intron). If the mutation was after the start of the exon, it would be denoted with a "+".
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G>T: This shows that a Guanine (G) is being replaced by a Thymine (T).
So, NM_000492.3:c.489-3G>T denotes a mutation 3 base pairs before the start of an exon in the gene identified by NM_000492.3, where a Guanine is replaced by a Thymine.
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