Table 3.

Biologically important MT₂ receptor variants

Amino acid change	Type of variant	Description	Reference
A8S	Missense mutation	Very rare variant identified in control population without obvious functional defect	Bonnefond et al., 2012
A13V	Missense mutation	Very rare variant identified in control population without obvious functional defect	Bonnefond et al., 2012
G21S	Missense mutation	Very rare variant identified in control population without obvious functional defect	Bonnefond et al., 2012
W22L	Missense mutation	Very rare variant identified in type 2 diabetes patients, associated with type 2 diabetes risk, impaired Gi protein activation	Bonnefond et al., 2012
G24E	Missense mutation	Common variant, not associated with type 2 diabetes risk but associated with prevalence of obesity and increased BMI shown in one study but not in another	Andersson et al., 2010; Bonnefond et al., 2012; Chaste et al., 2010; Ebisawa et al., 1999
A25T	Missense mutation	Very rare variant identified in control population without obvious functional defect	Bonnefond et al., 2012
P36S	Missense mutation	Very rare variant identified in type 2 diabetes patients, without obvious functional defect	Bonnefond et al., 2012
A52T	Missense mutation	Very rare variant identified in type 2 diabetes patients, associated with type 2 diabetes risk, impaired Gi protein activation	Bonnefond et al., 2012
L66F	Missense mutation	Very rare variant identified in control population without obvious functional defect	Ebisawa et al., 1999
A74T	Missense mutation	Very rare variant identified in control population and type 2 diabetes patients, associated with type 2 diabetes risk, impaired Gi protein activation	Bonnefond et al., 2012
G109A	Missense mutation	Very rare variant identified in control population without obvious functional defect	Bonnefond et al., 2012
M120V	Missense mutation	Very rare variant identified in control population without obvious functional defect	Bonnefond et al., 2012
M120I	Missense mutation	Very rare variant identified in population with impaired fasting glucose and control population without obvious functional defect	Bonnefond et al., 2012
S123R	Missense mutation	Very rare variant identified in population with impaired fasting glucose and control population without obvious functional defect	Bonnefond et al., 2012
V124I	Missense mutation	Very rare variant identified in several populations including type 2 diabetes and ADSD without obvious functional defect in one study and impaired ERK1/2 activation in another	Andersson et al., 2010; Bonnefond et al., 2012; Chaste et al., 2010
R138C	Missense mutation	Rare variant, not associated with type 2 diabetes risk, no Gi and ERK1/2 activation	Andersson et al., 2010; Bonnefond et al., 2012; Chaste et al., 2010
R138L	Missense mutation	Very rare variant identified in control population, associated with type 2 diabetes risk, impaired Gi protein activation	Bonnefond et al., 2012
R138H	Missense mutation	Very rare variant identified in control population, associated with type 2 diabetes risk, impaired Gi protein activation	Bonnefond et al., 2012
Y141F	Missense mutation	Very rare variant identified in type 2 diabetes patients, without obvious functional defect	Bonnefond et al., 2012
M146V	Missense mutation	Very rare variant identified in control population without obvious functional defect	Bonnefond et al., 2012
R154H	Missense mutation	Very rare variant identified in control population and type 2 diabetes patients without obvious functional defect	Bonnefond et al., 2012
L166I	Missense mutation	Very rare variant identified in control population, associated with type 2 diabetes risk, impaired Gi protein activation	Bonnefond et al., 2012
T201M	Missense mutation	Very rare variant identified in type 2 diabetes patients, without obvious functional defect	Bonnefond et al., 2012
R222H	Missense mutation	Very rare variant identified in type 2 diabetes patients, associated with type 2 diabetes risk, impaired Gi protein activation	Bonnefond et al., 2012
I223T	Missense mutation	Very rare variant identified in type 2 diabetes patients, without obvious functional defect	Bonnefond et al., 2012
R231H	Missense mutation	Rare variant, not associated with type 2 diabetes risk	Andersson et al., 2010; Bonnefond et al., 2012; Chaste et al., 2010
A234T	Missense mutation	Very rare variant identified in control population without obvious functional defect	Bonnefond et al., 2012
E237K	Missense mutation	Very rare variant identified in control population without obvious functional defect	Bonnefond et al., 2012
S238G	Missense mutation	Very rare variant identified in type 2 diabetes patients, without obvious functional defect	Bonnefond et al., 2012
K243R	Missense mutation	Common variant, not associated with type 2 diabetes risk	Bonnefond et al., 2012
D246N	Missense mutation	Very rare variant identified in type 2 diabetes patients, without obvious functional defect	Bonnefond et al., 2012
F250V	Missense mutation	Very rare variant identified in type 2 diabetes patients with impaired ERK1/2 activation	Bonnefond et al., 2012
R316H	Missense mutation	Very rare variant identified in control population without obvious functional defect	Bonnefond et al., 2012
R330W	Missense mutation	Very rare variant identified in type 2 diabetes patients, associated with type 2 diabetes risk, impaired Gi protein activation	Bonnefond et al., 2012
R330Q	Missense mutation	Very rare variant identified in control population without obvious functional defect	Chaste et al., 2010
A342V	Missense mutation	Very rare variant identified in type 2 diabetes patients, without obvious functional defect	Bonnefond et al., 2012
I353T	Missense mutation	Very rare variant identified in type 2 diabetes patients and control population, associated with type 2 diabetes risk, impaired Gi protein activation	Bonnefond et al., 2012
A359E	Missense mutation	Very rare variant identified in control population without obvious functional defect	Bonnefond et al., 2012

Common [minor allelic frequency (MAF) >1%], rare (MAF 0.1–1%) and very rare (MAF < 0.1%) variants.