Role of Catalase in Oxidative Stress- and Age-Associated Degenerative Diseases

Table 3

Four different types of Hungarian acatalasemia.

Types	Position of mutation	Types of mutation	Results of mutation	Effect on catalase	References
Type A	Insertion of GA at position 138 in exon 2 occurs which is responsible for the increase of the repeat number from 4 to 5	Frame shift mutation	Creates a TGA codon at position 134	Lacks a histidine residue, an essential amino acid necessary for hydrogen peroxide binding	[168]
Type B	Insertion of G at position 79 of exon 2	Frame shift mutation	Generates a stop codon TGA at position 58	A nonfunctional protein is produced	[169]
Type C	A substitution mutation of G to A at position 5 in intron 7	Splicing mutation	No change in peptide chain	Level of catalase protein expression is decreased	[170, 171]
Type D	Mutation of G to A at position 5 of exon 9	Coding region mutation	Replaces the arginine^345 residue to histidine or cysteine	Lowering of catalase activity	[172]