Mutations
MAPT L315L
Quick Links
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
References
Paper Citations
- D'Souza I, Schellenberg GD. Regulation of tau isoform expression and dementia. Biochim Biophys Acta. 2005 Jan 3;1739(2-3):104-15. PubMed.
- Liu F, Gong CX. Tau exon 10 alternative splicing and tauopathies. Mol Neurodegener. 2008 Jul 10;3:8. PubMed.
Further Reading
Learn More
Protein Diagram
Other mutations at this position
Alzpedia
Disclaimer: Alzforum does not provide medical advice. The Content is for informational, educational, research and reference purposes only and is not intended to substitute for professional medical advice, diagnosis or treatment. Always seek advice from a qualified physician or health care professional about any medical concern, and do not disregard professional medical advice because of anything you may read on Alzforum.
Comments
No Available Comments
Make a Comment
To make a comment you must login or register.