Mutations Position Table
MAPT L266 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| L266L |
: Not Classified | Substitution | Substitution | Silent | Coding | Exon 9 | Not applicable. |
Unknown. Predicted benign in silico (PHRED-scaled CADD = 11.5). |
Guerreiro et al., 2010 |
| L266V |
Frontotemporal Dementia Spectrum : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 9 | Severe atrophy of the frontal and temporal lobes; Extensive neuronal loss and gliosis; Many tau-positive inclusions, including Pick bodies (3R tau), some with PICALM, and Tau-positive argyrophilic astrocytes with stout filaments and round or irregular argyrophilic inclusions (4R tau). |
Decreased rate and extent of tau-induced microtubule assembly; 3R isoform-specific increase in tau self-assembly. Increased levels of exon 10+ tau RNA and soluble 4R tau, but no change in splicing assay. |
Kobayashi et al., 2003; Hogg 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.