Mutations Position Table
PSEN1 I168 Mutations
Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Coding/Non-Coding | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
---|---|---|---|---|---|---|---|---|---|---|
I168dup |
Alzheimer's Disease, Myoclonus | AD : Not Classified | Neuropatholgoy consistent with AD in one case. | Unknown, but in silico algorithms (PROVEAN and SIFT) predicted pathogenicity and CADD score was 20.2. | Coding | Exon 6 | Duplicaton ATA to ATA.ATA |
0 | O'Connor et al., 2021 | |
I168T |
Alzheimer's Disease | AD : Not Classified | Neuropathology consistent with AD. | No significant effect on Aβ40 or Aβ42 secretion in cells; decreased Aβ42 and abrogated Aβ40 production in vitro. | Coding | Exon 6 | Point, Missense ATA to ACA |
0 | Sassi et al., 2014 | |
I168del (TATdel) (I167del) |
Alzheimer's Disease | AD : Not Classified | Unknown | Decreased Aβ37/Aβ42, increased Aβ42/Aβ40, and increased Aβ43 in cultured cells (variant's nucleotide change was unspecified). | rs63750879 |
Coding | Exon 6 | Deletion ATT.ATA to ATA |
0 | Janssen et al., 2003 |
I168del (TTAdel) (I167del) |
Alzheimer's Disease | AD : Pathogenic | Unknown. | Decreased Aβ37/Aβ42, increased Aβ42/Aβ40, and increased Aβ43 in cultured cells (nucleotide change unspecified). | Coding | Exon 6 | Deletion TTA to --- |
0 | Jiao et al., 2014 |
Disclaimer: Alzforum does not provide medical advice. The Content is for informational, educational, research and reference purposes only and is not intended to substitute for professional medical advice, diagnosis or treatment. Always seek advice from a qualified physician or health care professional about any medical concern, and do not disregard professional medical advice because of anything you may read on Alzforum.