Mutations Position Table

PSEN1 M233 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
M233L (A>C)
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown.

Unknown.

[MET1] g.44716A>C
[NT1] g.61322A>C
rs63751287
Coding
Exon 7
Point, Missense
ATG to CTG
0 Aldudo 1999
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.

Unknown.

[MET1] g.44716A>G
[NT1] g.61322A>G
rs63751287
Coding
Exon 7
Point, Missense
ATG to GTG
0 Houlden 2001
M233L (A>T)
Alzheimer's Disease Frontotemporal Dementia : Pathogenic [MET1] g.44716A>T
[NT1] g.61322A>T
rs63751287
Coding
Exon 7
Point, Missense
ATG to TTG
0 Mendez 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.

[MET1] g.44717T>C
[NT1] g.61323T>C
rs63751024
Coding
Exon 7
Point, Missense
ATG to ACG
1 Kwok 1997
M233I
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with a diagnosis of AD, including amyloid plaques and tau-positive neurofibrillary tangles. Astrocytic gliosis, spongiosis, prion protein, and inflammatory signs were not observed.

Unknown.

[MET1] g.44718G>C
[NT1] g.61324G>C
rs63751479
Coding
Exon 7
Point, Missense
ATG to ATC
0 Portet 2003