Mutations

MAPT L315L

Overview

Pathogenicity: Frontotemporal Dementia : Pathogenic
Clinical Phenotype: Frontotemporal Dementia
Genomic Mutation Name (MET1): g.127673G>A
Genomic Mutation Name (NT1): g.124852G>A
dbSNP ID: rs63751231
Coding/Non-Coding: Coding
Genomic Region: Exon 11
Mutation Type: Point, Silent
Codon Change: CTG to CTA

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).

Comments

Make a Comment

To make a comment you must login or register.

Comments on this content

No Available Comments

References

Paper Citations

  1. . Regulation of tau isoform expression and dementia. Biochim Biophys Acta. 2005 Jan 3;1739(2-3):104-15. PubMed.
  2. . Tau exon 10 alternative splicing and tauopathies. Mol Neurodegener. 2008;3:8. PubMed.

Further Reading

Learn More

Other mutations at this position

View Table