Human 5-HT3B -- Val 183

Species Original Mutated to Mutation
Human Val 183 Ile

V183I

Rat Equivalent Ile 179    
Mouse Equivalent Ile 179  

 

 

 

Val183Ile

The V183I mutation, a common polymorphism with high frequency for the minor allele, has been associated with bipolar affective disorder.

The mutant 5-HT3B V183I maximum 5-HT response was slightly lower than the response in wild type receptors, likely due to reduced receptor expression, suggesting a possible role of this residue in receptor synthesis and/or trafficking.

The V183I mutant showed equivalent modification in receptor expression and function, so the maximum efficacy/maximum binding ratio was close to 1.

 

Walstab J, Hammer C, Bönisch H, Rappold G, Niesler B. (2008) Naturally occurring variants in the HTR3B gene significantly alter properties of human heteromeric 5-hydroxytryptamine-3A/B receptors. Pharmacogenet Genomics. 18(9):793-802

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