Mutations Position Table

APP I716 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
I716F
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neurofibrillary changes (Braak stage VI); amyloid deposits (stage C); Lewy bodies in the amygdala.

Increased Aβ42; decreased Aβ40; increased Aβ42/Aβ40 ratio; increased APP C-terminal fragments; decreased production of APP intracellular domain.

[MET1] g.275338A>T
[NT1] g.284034A>T
rs1455649881
Coding
Exon 17
Point, Missense
ATC to TTC
2 Guerreiro 2010
I716T
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown.

Unknown.

[MET1] g.275339T>C
[NT1] g.284035T>C
rs63750851
Coding
Exon 17
Point, Missense
ATC to ACC
0 Terreni 2002
I716V
(Florida)
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Diffuse cortical atrophy, most prominant in the left anterior temporal lobe.

Increased Aβ42(43) and increased Aβ42(43)/Aβ40 ratio.

[MET1] g.275338A>G
[NT1] g.284034A>G
rs63750399
Coding
Exon 17
Point, Missense
ATC to GTC
1 Eckman 1997

There are three known missense mutations described at APP codon 716 which replace the amino acid isoleucine with valine, phenylalanine or threonine. These mutations are all rare, with only one family reported for each mutation. The amino acid change associated with these mutations occurs outside the Aβ sequence but alters the relative levels of Aβ peptides. Specifically these mutations increase the Aβ42/Aβ40 ratio.