Mutations

MAPT G200E

Overview

Pathogenicity: Frontotemporal Dementia : Not Pathogenic
Clinical Phenotype: None
Reference Assembly: GRCh37/hg19
Position: Chr17:44060769 G>A
dbSNP ID: rs757159453
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: GGG to GAG
Reference Isoform: Tau Isoform PNS Tau (758 aa)
Genomic Region: Exon 6

Findings

This variant in MAPT was found in an exome sequencing study of 141 Caucasian individuals with late-onset Alzheimer’s disease and 179 elderly Caucasian controls without neuropathology. Specifically, it was detected in one control individual with an APOE genotype of ε3/ε3 (Sassi et al., 2014). Note that the position of this variant is not present in most tau isoforms. However, it is present in PNS-tau (P10636-1) and Tau-G (P10636-9), which are 758 and 776 amino acids long, respectively. Therefore, the position of this variant is in reference to these isoforms, rather than to isoform Tau-F (P10636-8).

Neuropathology

Not applicable.

Biological Effect

Unknown. In silico, this variant is predicted to be “possibly damaging.” It is classified as a benign polymorphism according to the algorithm proposed by Guerreiro et al., 2010 (Sassi et al., 2014).

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References

Paper Citations

  1. . Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease. Neurobiol Aging. 2014 Dec;35(12):2881.e1-6. Epub 2014 Jun 16 PubMed.
  2. . Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiol Aging. 2010 May;31(5):725-31. Epub 2008 Jul 30 PubMed.

External Citations

  1. P10636-1
  2. P10636-9
  3. P10636-8

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease. Neurobiol Aging. 2014 Dec;35(12):2881.e1-6. Epub 2014 Jun 16 PubMed.

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