Question: Same DNA sequence code change in different genes
gravatar for davehresearch
5.4 years ago by
Sri Lanka
davehresearch20 wrote:

If the same DNA sequence code change is present in different genes, does that mean they represent different variants or same variant? Ex - What if "c.79C>T" change is present both in the genes KCNE2 and KCNE1? Does that mean they are different variants? If so, do those variants have common features such as, the change c.79C>T can cause a certain disease no matter in what Gene they are found? 

variants gene • 1.0k views
ADD COMMENTlink modified 5.4 years ago by 13en90 • written 5.4 years ago by davehresearch20
gravatar for Devon Ryan
5.4 years ago by
Devon Ryan98k
Freiburg, Germany
Devon Ryan98k wrote:

KCNE1 and KCNE2 are different genes, so yes, those would constitute different variants. There does not need to be any relationship between the two variants.

ADD COMMENTlink written 5.4 years ago by Devon Ryan98k
gravatar for 13en
5.4 years ago by
United Kingdom
13en90 wrote:

c. numbering is relative to the start of the coding sequence of a gene, so for every gene it starts again from 1. To avoid confusion the gene or transcript should really be included, e.g. KCNE1:c.79C>T, and you can also include p. protein nomenclature to show that the effects are different too: KCNE1:c.79C>T(p.=) vs. KCNE2:c.79C>T(p.Arg27Cys).

The HGVS website has a very detailed overview of their system for describing variants, which may clear up some of your confusion.

ADD COMMENTlink written 5.4 years ago by 13en90
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