Mutations

MAPT R211H

Overview

Pathogenicity: Frontotemporal Dementia : Benign
Clinical Phenotype: None
Reference Assembly: GRCh37/hg19
Position: Chr17:44,073,840 G>A
dbSNP ID: NA
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: CGC to CAC
Reference Isoform: Tau Isoform Tau-F (441 aa)
Genomic Region: Exon 8

Findings

This variant was detected in one out of 376 control cases from the KORA-Age cohort, based in Germany (Schulte et al., 2015). Limited information is available about this person, but according to a description of the cohort as a whole, all individuals were Caucasian and cognitively healthy at age 65 or older (Schulte et al., 2012).

Note that this variant was reported as R546H in tau isoform G (P10636-9), aka isoform 6 (NP_001116538), which is 776 amino acids in length. The name here, R211H, reflects this variant's position in tau isoform F (441 amino acids), which is conventionally used for naming tau mutations.

Neuropathology

Not applicable.

Biological Effect

Unknown.

Comments

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References

Paper Citations

  1. . Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease. Eur J Hum Genet. 2015 Jan 21; PubMed.
  2. . Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease. Neurogenetics. 2012 Aug;13(3):281-5. Epub 2012 Jun 16 PubMed.

External Citations

  1. P10636-9
  2. NP_001116538

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease. Eur J Hum Genet. 2015 Jan 21; PubMed.

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