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Article

A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif.

Human mutation - 1 Feb 2018

Bock Andrea S, Günther Sven, Mohr Julia, Goldberg Lisa V, Jahic Amir, Klisch Cornelia, Hübner Christian A, Biskup Saskia, Beetz Christian

Abstract excerpt

Single-nucleotide variants that abolish the stop codon ("nonstop" alterations) are a unique type of substitution in genomic DNA. Whether they confer instability of the mutant mRNA or result in expression of a C-terminally extended protein depends on the absence or presence of a downstream in-frame stop codon, respectively. Of the predicted protein extensions, only few have been functionally characterized. In a...

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3' Untranslated Regions
Charcot-Marie-Tooth Disease
Genotype
Membrane Transport Proteins
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Peripheral Nervous System Diseases

Spastic Paraplegia, Hereditary

Source

Identifiers

PMID: 29124833
DOI: 10.1002/humu.23369

Genes

REEP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif.PMID 29124833Read ↗

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