Mutations

MAPT R5C

Overview

Pathogenicity: Parkinson's Disease Dementia : Unclear Pathogenicity
Clinical Phenotype: Parkinson's Disease Dementia
Reference Assembly: GRCh37/hg19
Position: Chr17:44039716 C>T
dbSNP ID: NA
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: CGC to TGC
Reference Isoform: Tau Isoform Tau-F (441 aa)
Genomic Region: Exon 1

Findings

The R5C variant in MAPT was detected in one out of 188 individuals diagnosed with Parkinson’s disease with dementia (Schulte et al., 2015). The variant-carrier had apparently idiopathic PD that presented first with bradykinesia and resting tremor. He later developed rigor, postural instability and dementia. He had a dizygotic twin brother with life-long essential tremor, but the brother was not available for genotyping. The variant was absent in 188 PD cases without dementia and in 376 controls.

Neuropathology

Unknown.

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.

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.

Other mutations at this position

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