Mutations Position Table
MAPT L315 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| L315L |
FTD : Not Classified | Substitution | Substitution | Silent | Coding | Exon 11 | Unknown. |
Unknown. |
|
| L315R |
FTD : Incomplete Penetrance | Substitution | Substitution | Missense | Coding | Exon 11 | Extensive tau pathology in neurons (Pick-like inclusions) and astrocytes, particularly in the frontotemporal cortex and hippocampus. Tau extracted from the cerebral cortex was present in straight and twisted tau filaments. |
Recombinant L315R tau protein has a compromised ability to promote microtubule assembly. |
van Herpen et al., 2003 |
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.