Mutations
MAPT S318L
Quick Links
Overview
Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Clinical
Phenotype: Alzheimer's Disease, None
Position: (GRCh38/hg38):Chr17:45983757 C>T
Position: (GRCh37/hg19):Chr17:44061123 C>T
dbSNP ID: rs73314997
Coding/Non-Coding: Coding
DNA
Change: Substitution
Expected RNA
Consequence: Substitution
Expected Protein
Consequence: Missense
Codon
Change: TCG to TTG
Reference
Isoform: Tau Isoform Tau-G (776 aa)
Genomic
Region: Exon 4a
Findings
This variant in exon 4a of MAPT was found in a study of people of Spanish descent (Jin et al., 2012). It was detected in one out of 176 people with Alzheimer's disease and was absent in 139 controls. The mutation carrier was described as having sporadic early onset AD with symptoms starting at age 64.5. Further clinical information was not reported.
This variant occurs in exon4a, which is excluded from the six major tau isoforms expressed in the human brain. However, it is present in longer isoforms, such as PNS-tau (P10636-1) and Tau-G (P10636-9), which are 758 and 776 amino acids long, respectively. Therefore, the position of this variant is in reference to these isoforms, rather than to isoform Tau-F (P10636-8), which is conventionally used for naming mutations in tau.
Neuropathology
Unknown.
Biological Effect
Unknown.
Last Updated: 20 Mar 2024
References
Paper Citations
- Jin SC, Pastor P, Cooper B, Cervantes S, Benitez BA, Razquin C, Goate A, Ibero-American Alzheimer Disease Genetics Group Researchers, Cruchaga C. Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort. Alzheimers Res Ther. 2012 Aug 20;4(4):34. PubMed.
External Citations
Further Reading
No Available Further Reading
Protein Diagram
Primary Papers
- Jin SC, Pastor P, Cooper B, Cervantes S, Benitez BA, Razquin C, Goate A, Ibero-American Alzheimer Disease Genetics Group Researchers, Cruchaga C. Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort. Alzheimers Res Ther. 2012 Aug 20;4(4):34. PubMed.
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