R127W in HNF4alpha is a loss-of-function mutation causing maturity-onset diabetes of the young (MODY) in a UK Caucasian family.

Adolescent Adult Age of Onset Amino Acid Sequence Amino Acid Substitution Animals Basic Helix-Loop-Helix Leucine Zipper Transcription Factors Conserved Sequence DNA-Binding Proteins/genetics Diabetes Mellitus, Type 2/genetics Female Hepatocyte Nuclear Factor 4 Humans Lod Score Male Mutation, Missense Pedigree Phosphoproteins/genetics Transcription Factors/genetics United Kingdom Whites/genetics

Basic Helix-Loop-Helix Leucine Zipper Transcription Factors DNA-Binding Proteins HNF4A protein, human Hepatocyte Nuclear Factor 4 MLX protein, human Phosphoproteins Transcription Factors