Family tree with affected and sequenced individuals.
The p.N2291D is located in the RIH (RyR and IP3R Homology) domain of the protein and also overlaps hotspot II
Both SPINA-GBeta and fasting proinsulin are significantly higher in RyR2 MODY diabetes. Increased SPINA-GBeta represents dynamical compensation of insulin resistance.
Breaking news: In combination with whole-exome sequencing, #SPINA_Carb helped to discover a new form of #MODY #diabetes, caused by an atypical missense variant in the #RyR2 gene (coding the the type 2 #ryanodine receptor). doi.org/10.3389/fend... 🧪🩺
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