Table 4.

Mutations in the MTNR1B gene associated with susceptibility to type 2 diabetes

Amino acid change	Type of variant	Description	Reference
A42P	Missense mutation	Very rare variant identified in type 2 diabetes patients, associated with type 2 diabetes risk, no melatonin binding and signalling	Bonnefond et al., 2012
L60R	Missense mutation	Very rare variant identified in control population and type 2 diabetes patients, associated with type 2 diabetes risk, no melatonin binding and signalling	Andersson et al., 2010; Bonnefond et al., 2012
P95L	Missense mutation	Very rare variant identified in type 2 diabetes patients, associated with type 2 diabetes risk, no melatonin binding and signalling	Bonnefond et al., 2012
Y308S	Missense mutation	Very rare variant identified in type 2 diabetes patients, associated with type 2 diabetes risk, no melatonin binding and signalling	Bonnefond et al., 2012

Very rare (minor allelic frequency <0.1%) variants.