Overview

Pathogenicity: Frontotemporal Dementia : Benign
Clinical Phenotype: None
Position: (GRCh38/hg38):Chr17:45983409 C>T
Position: (GRCh37/hg19):Chr17:44060775 C>T
dbSNP ID: rs63750417
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: CCG to CTG
Reference Isoform: Tau Isoform PNS Tau (758 aa)
Genomic Region: Exon 4a

Findings

This variant in exon 4a of MAPT is thought to be benign. Originally described according to nucleotide position in exon 4a (232), it was associated with a haplotype more common in controls than Alzheimer's disease patients (Lilius et al., 1999). It occurs at a relatively high frequency (21 percent) in some populations (Stanford et al., 2004).

Exon 4a 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

Unknown.

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References

Paper Citations

1. Lilius L, Froelich Fabre S, Basun H, Forsell C, Axelman K, Mattila K, Andreadis A, Viitanen M, Winblad B, Fratiglioni L, Lannfelt L. Tau gene polymorphisms and apolipoprotein E epsilon4 may interact to increase risk for Alzheimer's disease. Neurosci Lett. 1999 Dec 17;277(1):29-32. PubMed.
2. Stanford PM, Brooks WS, Teber ET, Hallupp M, McLean C, Halliday GM, Martins RN, Kwok JB, Schofield PR. Frequency of tau mutations in familial and sporadic frontotemporal dementia and other tauopathies. J Neurol. 2004 Sep;251(9):1098-104. PubMed.

External Citations

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

Further Reading