Mutations

MAPT P200P

Overview

Pathogenicity: Frontotemporal Dementia : Benign
Clinical Phenotype: None
Reference Assembly: GRCh37/hg19
Position: Chr17:44073808 C>T
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Silent
Codon Change: CCC to CCT
Reference Isoform: Tau Isoform Tau-F (441 aa)
Genomic Region: Exon 9

Findings

This rare variant was detected in a large sequencing study that screened 282 samples from different regions of the world (106 Asian,  87 African, 84 European, and five Middle Eastern), obtained from the Centre d'Etude du Polymorphisme Humain—Human Genome Diversity Cell Line Panel (CEPH-HGDP). The variant was detected in one individual of Chinese descent and appears to be benign (Guerreiro et al., 2010).

Neuropathology

Not applicable.

Biological Effect

Unknown.

Last Updated: 14 Mar 2024

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References

Paper Citations

  1. Guerreiro RJ, Washecka N, Hardy J, Singleton A. A thorough assessment of benign genetic variability in GRN and MAPT. Hum Mutat. 2010 Feb;31(2):E1126-40. PubMed.

Further Reading

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

Protein Diagram

Primary Papers

  1. Guerreiro RJ, Washecka N, Hardy J, Singleton A. A thorough assessment of benign genetic variability in GRN and MAPT. Hum Mutat. 2010 Feb;31(2):E1126-40. PubMed.

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