Table 4.

Effects of disease mutations on conformational dynamics

Effect	Disease Associated	Gene/Mutation	Reference
Conformational Flexibility	Diabetes and Cancer	PTEN; H61D	128
	Multiple Diseases	cNTnC; L48Q	184
	Conformational Diseases	α(1)-antitrypsin variant; K154N	129
	Variegate Porphyria Disorder	hPPO; R59Q, R59G	130
	Colorectal Cancer	mitotic centromere-associated kinesin protein; E403K	185
	Classic Galactosemia	GALT; multiple sites	186
	Becker Muscular Dystrophy	dystrophin protein; L427P	187
Disordered Regions	Parkinson disease	α-synuclein; multiple sites	133
	Ovarian Cancer	HPV proteins; multiple sites	133
	Cancer	p53 protein; multiple sites	133
	Huntington’s disease	huntingtin; multiple sites	133
Order-Disorder Transitions	Stargardt Disease (type 1)	Multiple mutations	188
	Adrenoleukodystrophy X-linked	Multiple mutations	188
	Androgen Insensitivity Syndrome	Multiple mutations	188
	Citrullinemia (type 1)	Multiple mutations	188
Aggregation	Alpha(1)-antitrypsin Deficiency and Cystic Fibrosis	human serine protease inhibitor (serpin) α-1 antitrypsin; E342K	140; 189
	Creutzfeldt-Jakob disease and Gerstmann-Straussler-Scheinker Disease	prion protein; multiple sites	141
Local Motion	Cancers	KLK3; multiple sites	190; 191; 192