Mutations

PSEN1 L226R

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73659480 T>G
dbSNP ID: rs63749961
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: CTC to CGC
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 7

Findings

Neuropathology
In one individual, neuropathology was found to be consistent with AD, including numerous neuritic plaques and neurofibrillary tangles in the hippocampus and neocortex.

Biological Effect
Although the biological effects of this mutation remain unknown, its position is consistent with the helical alignment of pathogenic mutations in transmembrane domain 5.

Last Updated: 01 Mar 2019

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References

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Further Reading

Papers

  1. Ma L, Zhang J, Shi Y, Wang W, Ren Z, Xia M, Zhang Y, Yang M. Gene mutations in a Han Chinese Alzheimer's disease cohort. Brain Behav. 2019 Jan;9(1):e01180. Epub 2018 Dec 14 PubMed.

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

Protein Diagram

Primary Papers

  1. Coleman P, Kurlan R, Crook R, Werner J, Hardy J. A new presenilin Alzheimer's disease case confirms the helical alignment of pathogenic mutations in transmembrane domain 5. Neurosci Lett. 2004 Jul 8;364(3):139-40. PubMed.

Other mutations at this position

View Table

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