Mutations

PSEN1 W203C

Overview

Pathogenicity: Amyotrophic Lateral Sclerosis : Unclear Pathogenicity
Clinical Phenotype: Amyotrophic Lateral Sclerosis
Reference Assembly: GRCh37 (105)
Position: Chr14:73659412 G>C
dbSNP ID: 1384308168
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: TGG to TGC
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 7

Findings

This mutation was found in a targeted sequencing screen of 169 genes in 242 patients with amyotrophic lateral sclerosis (ALS) from the Coriell collection of North American Caucasian DNA samples (Couthouis et al., 2014). The carrier was a man diagnosed with bulbar-onset ALS and no known family history of the disease. He was 61 years old at the time of sample collection. The mutation was absent from the ESP6500, 1000genomes, and dbSNPv137 databases.

Neuropathology
Unknown.

Biological Effect
The biological effect of this mutation is unknown. According to the PhyloP algorithm, the codon is evolutionarily conserved. In silico algorithms, including SIFT, PolyPhen2, and Mutation Taster, predicted it to be deleterious.

Last Updated: 11 Jun 2019

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References

Paper Citations

  1. . Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis. PLoS Genet. 2014 Oct;10(10):e1004704. Epub 2014 Oct 9 PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis. PLoS Genet. 2014 Oct;10(10):e1004704. Epub 2014 Oct 9 PubMed.

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