Table 2.
Common mutations of APP affecting secretase activities with giving the site of mutation and amino acid change.
APP Mutation | Amino Acid Change | Site of Mutation (APP Amino Acid Number) |
|
---|---|---|---|
Swedish | K > N M > L |
Lysine > Asparagine Methionine >Leucine | 670 671 |
DN | A > V | Alanine > Valine | 673 |
English | H > R | Histidine > Arginine | 677 |
Tottori | D > N | Aspartic acid > Asparagine | 678 |
Taiwanese | D > H | Aspartic acid > Histidine | 678 |
Leuven (Italian) | E > K | Glutamic acid > Lysine | 682 |
Flemish | A > G | Alanine >Glycine | 692 |
Arctic | E > G | Glutamic acid > Glycine | 693 |
Italian | E > K | Glutamic acid > Lysine | 693 |
Dutch | E > Q | Glutamic acid > Glutamine | 693 |
Iowa | D > N | Aspartic acid > Asparagine | 694 |
Austrian | T > I | Threonine >Isoleucine | 714 |
Iranian | T > A | Threonine > Alanine | 714 |
German | V > A | Valine > Alanine | 715 |
French | V > M | Valine > Methionine | 715 |
Florida | I > V | Isoleucine > Valine | 716 |
Indiana | V > F | Valine > Phenylalanine | 717 |
London | V > I | Valine > Isoleucine | 717 |
--------- | V > L | Valine > Leucine | 717 |