Mutations Position Table
PSEN1 M233 Mutations
| Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Coding/Non-Coding | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
|---|---|---|---|---|---|---|---|---|---|---|
| M233I (G>A) |
Alzheimer's Disease | AD : Pathogenic | Unknown. | Decreased the Aβ (37 + 38 + 40) / (42 + 43) and Aβ37/Aβ42 ratios; increased Aβ42/Aβ40 in two cell-based assays (variant's nucleotide change unspecified). | Coding | Exon 7 | Point, Missense ATG to ATA |
0 | Wallon et al., 2012 | |
| M233I (G>C) |
Alzheimer's Disease | AD : Not Classified | Neuropathology consistent with a diagnosis of AD, including amyloid plaques and tau-positive neurofibrillary tangles. No evidence of astrocytic gliosis, spongiosis, or prion disease. | Decreased the Aβ (37 + 38 + 40) / (42 + 43) and Aβ37/Aβ42 ratios; increased Aβ42/Aβ40 in two cell-based assays (nucleotide change unspecified). | rs63751479 |
Coding | Exon 7 | Point, Missense ATG to ATC |
0 | Portet et al., 2003 |
| M233T |
Alzheimer's Disease | AD : Pathogenic | Neuropathology consistent with AD in at least one case. | Increased Aβ42, Aβ48, and Aβ39; Decreased Aβ38, Aβ40, Aβ43, and Aβ46. | rs63751024 |
Coding | Exon 7 | Point, Missense ATG to ACG |
1 | Kwok et al., 1997 |
| M233L (A>C) |
Alzheimer's Disease | AD : Pathogenic | Unknown; imaging showed global cerebral atrophy. | In vitro, increased Aβ42 production, decreased Aβ40 production; increased Aβ42:Aβ40 ratio. In cells, increased Aβ42 and Aβ43, decreased total Aβ production, increased Aβ42:Aβ40 ratio. Disrupts endosomes via accumulation of APP β-CTF. | rs63751287 |
Coding | Exon 7 | Point, Missense ATG to CTG |
0 | Aldudo et al., 1999 |
| M233L (A>T) |
Alzheimer's Disease | FTD : Not Classified | Unknown, but SPECT revealed hypoperfusion in posterior pariteal areas and a subsequent PET scan showed hypometabolism in prefrontal, parietal, and temporal cortices, in one case. MRI showed global cerebral atrophy. | Increased Aβ42 and decreased Aβ40 production, resulting in increased Aβ42/Aβ40 ratio in vitro. In cells, increased Aβ42/Aβ40 ratio, decreased total Aβ production and elevated levels of Aβ42 and Aβ43. Also, poromotes accumulation of APP β-CTFs which disrupt endosomes. | rs63751287 |
Coding | Exon 7 | Point, Missense ATG to TTG |
0 | Mendez and McMurtray, 2006 |
| M233V |
Alzheimer's Disease | AD : Pathogenic | In one case: neurofibrillary tangles and amyloid plaques throughout the neocortex; occasional plaques in the spinal cord; Lewy bodies in the substantia nigra and cortex; moderate to severe amyloid angiopathy in leptomeningeal, cerebral, and cerebellar vessels. Widespread amyloid deposition in another patient as assessed by PET. | 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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