Table 2.

Diseases associated with changes in stability as a result of mutations

Change In Stability	Disease	Gene/Mutation	Reference
Destabilizing	Muscular Diseases	LMNA; multiple sites	28
	Von Willebrand Disease	VWF A2; R1597W, M1528V	29
	Retinal Diseases	Rhodopsin; multiple sites	30
	Hemophagocytic Lymphohistiocytosis	Perforin; multiple sites	31; 32
	Neurodegerative/Prion Diseases	Prion; D178N	36
	Autosomal recessive Parkinson’s Disease	PINK1; multiple sites	37; 39
	Familial Alzheimer’s	Amyloid protein; Glu-22, Asp-23	40
	Inactivation of tumor suppressants	Multiple genes; multiple sites	41
	Snyder-Robinson Syndrome	Spermine Synthase; G56S, V132G, I150T, Y328C	46; 168
Stabilizing	Mental Disorder	CLIC2; H101Q	43