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 PNS Tau (758 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.

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References

Paper Citations

1. 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

1. P10636-1
2. P10636-9
3. P10636-8

Further Reading

No Available Further Reading