Overview

Pathogenicity: Alzheimer's Disease : Benign
Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr17:45993951 C>A
Position: (GRCh37/hg19):Chr17:44071317 C>A
dbSNP ID: rs192236920
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: CCC to CAC
Reference Isoform: Tau Isoform Tau-G (776 aa)
Genomic Region: Exon 8

Findings

This variant was detected in a Caucasian 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, this variant is named P512H in reference to the longest isoform of tau, Tau-G (P10636-9), which is 776 amino acids long. This amino acid is not present in isoform Tau-F (P10636-8) which is 441 amino acids long, and which is commonly used to describe the position of mutations in the tau protein.

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