Arg144Cys

Arg144Cys refers to a specific genetic variation within a gene. It signifies a change at amino acid position 144 of a protein, where the original amino acid, Arginine (Arg), has been replaced by Cysteine (Cys). This type of alteration is known as a missense mutation, as it results in the substitution of one amino acid for another.

The functional consequences of the Arg144Cys variant depend entirely on the specific gene and protein involved. In some cases, such a change might have no discernible effect on protein function or an individual's health, especially if the altered amino acid is located in a non-critical region of the protein or if the new amino acid has similar chemical properties. However, in other instances, this single amino acid substitution could significantly impact the protein's structure, stability, or interaction with other molecules.

Such changes can lead to altered biological activity, potentially contributing to the development of diseases or influencing an individual's susceptibility to certain conditions. Research into specific Arg144Cys variants is often conducted in the context of genetic studies and disease association studies to understand their role in human health and disease. The interpretation of its significance requires detailed knowledge of the protein's normal function and the specific cellular environment.