Table 3.

Diseases resulting from changes in the hydrogen bond network as a consequence of mutations

Effect on	Disease	Gene/Mutation	Reference
Structure	Prolidase Deficiency	PEPD; 304insA	169
	Aldosterone Synthase Deficiency	CYP11B; R374W	88
	Mitochondrial Fatty Acid Oxidation Disorder	CPT1; R595W	89
	Snyder-Robinson Syndrome	Spermine synthase; I150T	46
	Cardiovascular Disease Predisposition	Human lipoxygenase; T560M	91
	Congenital Hereditary Cataract Disease	βB1-crystallin; S129R	92
Aggregation/Folding	Alzheimer’s Disease	amyloid-β peptide aggregation; multiple sites	170
	Familial Alzheimer’s Disease	Fragment of amyloid beta- protein; multiple sites	171
	Amyloidosis (with severe cardiomyopathy)	Aggregation/cytotoxicity of transthyretin; S112I	172
Flexibility	Aneuploidy and Solid Tumors	CEP63; L61P	127
	Gaucher disease	acid-β-glucosidase; N370S	173
	Lethal Catecholaminergic Polymorphic Ventricular Tachycardia	Calsequestrin; R33Q	174
	Promotion of Aneuploidy and Tumorigenesis	Centromere-associated protein-E; Y63H	175
Cellular Localization	Brain Tumors	ING1B; p33	176
	May-Hegglin anomaly, Sebastian syndrome, and Fechtner syndrome	MYH9; multiple sites	177
pH	Human Amyloidosis	TTR; several residues	178
	Mental Retardation	CLIC2; H101Q	44
	Alzheimer’s Disease	Apolipoprotein E, apoE4 isoform	179
Activity	Pyruvate Dehydrogenase Complex	pyruvate dehydrogenase	180
	Deficiency	E1α subunit protein; multiple sites
	Classical Homocystinuria	cystathionine β-synthase; R266K	181
	Amyotrophic Lateral Sclerosis Disease	angiogenin protein; K17I	182
	Neonatal Epileptic Encephalopathy	pyridoxine 5′-phosphate oxidase; R229W	183
	Snyder Robinson Syndrome	spermine synthase; I150T	90