Mutations Position Table

PSEN1 M233 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
M233I (G>C)
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with a diagnosis of AD, including amyloid plaques and tau-positive neurofibrillary tangles. No evidence of astrocytic gliosis, spongiosis, or prion disease.

Unknown.

rs63751479
Coding
Exon 7
Point, Missense
ATG to ATC
0 Portet et al., 2003
M233I (G>A)
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown.

Unknown.


Coding
Exon 7
Point, Missense
ATG to ATA
0 Wallon et al., 2012
M233L (A>C)
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown; imaging showed global cerebral atrophy.

Unknown.

rs63751287
Coding
Exon 7
Point, Missense
ATG to CTG
0 Aldudo et al., 1999
M233L (A>T)
Alzheimer's Disease Frontotemporal Dementia : Pathogenic rs63751287
Coding
Exon 7
Point, Missense
ATG to TTG
0 Mendez and , 2006
M233T
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD in at least one case.

Increased Aβ42, Aβ48, and Aβ39; Decreased Aβ40, Aβ43, and Aβ46.

rs63751024
Coding
Exon 7
Point, Missense
ATG to ACG
1 Kwok et al., 1997
M233V
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Abundant neurofibrillary tangles and amyloid plaques throughout the neocortex; Occasional plaques in the spinal cord; Lewy bodies were observed in the substantia nigra and cortex; Moderate to severe amyloid angiopathy in leptomeningeal, cerebral, and cerebellar vessels.

Increased Aβ42/Aβ40 ratio; increased Aβ42; decreased Aβ40.

rs63751287
Coding
Exon 7
Point, Missense
ATG to GTG
0 Houlden et al., 2001

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