Mutations Position Table

APP I716 Mutations

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

Extensive mixed neuropathology, including neurofibrillary changes, amyloid deposits, and Lewy bodies.

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


Coding
Exon 17
Point, Missense
ATC to TTC
2 Guerreiro et al., 2010
I716M
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown; MRI showed mild bilateral hippocampal atrophy.

Unknown; predicted damaging in silico.


Coding
Exon 17
Point, Missense
ATC to ATG
0 Blauwendraat et al., 2016
I716T
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown.

Unknown.

rs63750851
Coding
Exon 17
Point, Missense
ATC to ACC
0 Terreni et al., 2002
I716V
(Florida)
Alzheimer's Disease Alzheimer's Disease : Pathogenic

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

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

rs63750399
Coding
Exon 17
Point, Missense
ATC to GTC
1 Eckman et al., 1997

These are all rare mutations, with only one family reported for each one to date. The amino acid change associated with these mutations occurs outside the Aβ sequence.