What is a missense variant?

Today, I want to share a little bit about genetics and a term called "missense variant."

Imagine our DNA 🧬 as a recipe book 📖 that contains instructions for our body to function properly. These instructions are written in a special language using four letters: A, T, C, and G.

Sometimes, there can be a slight change in one of these letters, which is called a genetic variant. When this change results in a different "word" (known as an amino acid) being used in the recipe, it's called a missense variant.

Think of it like replacing the word "sugar" with "salt" in a cake recipe. The cake might still turn out okay, but it could also taste quite different or not rise properly.

Similarly, missense variants can have different effects on our bodies, depending on where they occur and how they change the instructions.

There are many other types of genetic variants, for example:

* Intronic variants: These are like changes in the spaces between the words in the recipe. They don't directly change the instructions but can sometimes influence how they're read. 📏

* "Stop gained" variants: These are like accidentally putting a period in the middle of a sentence. The recipe suddenly stops, and the cake doesn't get fully made. In our bodies, this can lead to shortened or non-functional proteins. 🛑

Most genetic variants don't cause any noticeable changes, but some can contribute to genetic conditions or influence traits like eye color. 👀

I hope this helps explain genetic variants in a simple way! Let me know if you have any questions. 😊