Mutations Position Table

PSEN1 C263 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
C263F
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown. AD-like CSF levels of Aβ40, Aβ42, Aβ43, tau, and phospho-tau in one carrier, but not in another.

Variable effect on CSF Aβ levels.

rs63751102
Coding
Exon 8
Point, Missense
TGT to TTT
0 Janssen et al., 2003
C263R
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD.

Decreased Aβ40 and Aβ42 production and increased Aβ42/Aβ40 ratio in vitro.

rs63750543
Coding
Exon 8
Point, Missense
TGT to CGT
0 Wasco et al., 1995
C263W
Alzheimer's Disease Alzheimer's Disease : Likely Pathogenic

Unknown, but in one case, CSF biomarkers were consistent with AD and brain imaging revealed cortical atrophy in three cases.

Unknown, but 3D modeling suggested conformational effects and the PHRED-scaled CADD score was above 20 suggesting a deleterious effect.


Coding
Exon 8
Point, Missense
TGT to TGG
0 Tortelli et al., 2021

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