Overview

Pathogenicity: Alzheimer's Disease : Benign
Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr17:45989923 C>T
Position: (GRCh37/hg19):Chr17:44067289 C>T
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: CTT to TTT
Reference Isoform: Tau Isoform PNS Tau (758 aa)
Genomic Region: Exon 6

Findings

This variant was detected in a Caucasian individual from Italy who met clinical criteria for probable Alzheimer’s disease (Piccoli et al., 2016). Further clinical details were not reported. This rare variant is thought to be benign. It is found at low frequency in the ExAC database.

Note that this variant is located in exon 6 which is excluded from the six major tau isoforms expressed in the human brain, but it is present in 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). 

Neuropathology

Not applicable.

Biological Effect

In silico this variant has been predicted probably damaging by PolyPhen and tolerated by SIFT.

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References

Paper Citations

1. Piccoli E, Rossi G, Rossi T, Pelliccioni G, D'Amato I, Tagliavini F, Di Fede G. Novel PSEN1 mutations (H214N and R220P) associated with familial Alzheimer's disease identified by targeted exome sequencing. Neurobiol Aging. 2016 Apr;40:192.e7-11. Epub 2016 Feb 28 PubMed.

External Citations

1. ExAC database.

Further Reading

No Available Further Reading