Mutations
MAPT R5C
Quick Links
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
DNA
Change: Substitution
Expected RNA
Consequence: Substitution
Expected Protein
Consequence: 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.
Last Updated: 18 Feb 2015
References
Paper Citations
- Schulte EC, Fukumori A, Mollenhauer B, Hor H, Arzberger T, Perneczky R, Kurz A, Diehl-Schmid J, Hüll M, Lichtner P, Eckstein G, Zimprich A, Haubenberger D, Pirker W, Brücke T, Bereznai B, Molnar MJ, Lorenzo-Betancor O, Pastor P, Peters A, Gieger C, Estivill X, Meitinger T, Kretzschmar HA, Trenkwalder C, Haass C, Winkelmann J. 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
- Schulte EC, Fukumori A, Mollenhauer B, Hor H, Arzberger T, Perneczky R, Kurz A, Diehl-Schmid J, Hüll M, Lichtner P, Eckstein G, Zimprich A, Haubenberger D, Pirker W, Brücke T, Bereznai B, Molnar MJ, Lorenzo-Betancor O, Pastor P, Peters A, Gieger C, Estivill X, Meitinger T, Kretzschmar HA, Trenkwalder C, Haass C, Winkelmann J. 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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