RELN p.R2684H Mutation: Meaning, Significance & Potential Health Implications

The RELN p.R2684H mutation is a variant found in the RELN gene. This gene provides instructions for making a protein called reelin, which is important for brain development and function. The p.R2684H mutation is a change in the DNA sequence that results in an amino acid substitution of histidine for arginine at position 2684 of the reelin protein.

The significance of this mutation is not clear and may depend on the individual's genetic background and environmental factors. Some studies have suggested that this variant may be associated with an increased risk for certain neurological and psychiatric disorders, such as schizophrenia, bipolar disorder, and autism spectrum disorders. However, more research is needed to fully understand the effects of this mutation on brain function and behavior.