Human 5-HT3B -- Val 183
|Rat Equivalent||Ile 179|
|Mouse Equivalent||Ile 179||
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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