Mutations

MAPT L315L

Overview

Pathogenicity: Frontotemporal Dementia : Not Classified
Clinical Phenotype: Frontotemporal Dementia
Position: (GRCh38/hg38):Chr17:46014272 G>A
Position: (GRCh37/hg19):Chr17:44091638 G>A
dbSNP ID: rs63751231
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Silent
Codon Change: CTG to CTA
Reference Isoform: Tau Isoform Tau-F (441 aa)
Genomic Region: Exon 11

Findings

Little is known about this silent mutation, but it has been mentioned in reviews of MAPT mutations (D'Souza et al., 2005; Liu et al., 2008).

Neuropathology

Unknown.

Biological Effect

Unknown.

Last Updated: 18 Apr 2024

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References

Paper Citations

  1. D'Souza I, Schellenberg GD. Regulation of tau isoform expression and dementia. Biochim Biophys Acta. 2005 Jan 3;1739(2-3):104-15. PubMed.
  2. Liu F, Gong CX. Tau exon 10 alternative splicing and tauopathies. Mol Neurodegener. 2008 Jul 10;3:8. PubMed.

Further Reading

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

Protein Diagram

Other mutations at this position

View Table

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