A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa.

doi:10.1007/BF00216463

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Article

A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa.

Human genetics - 1 Nov 1993

Saga M, Mashima Y, Akeo K, Oguchi Y, Kudoh J, Shimizu N

Abstract excerpt

We have screened for possible disease-causing mutations in the peripherin/retinal degeneration slow (RDS) gene in 13 Japanese families with autosomal dominant retinitis pigmentosa (ADRP). Using polymerase chain reaction-single strand conformation polymorphism analysis, a novel mutation at codon 214 was found in which the highly conserved cysteine was replaced with a serine in one family. The mutation at codon 214...

Topics

Age of Onset
Base Sequence
Cysteine
DNA Mutational Analysis
DNA, Single-Stranded
Electrophoresis, Polyacrylamide Gel
Eye Proteins
Genes, Dominant
Humans
Intermediate Filament Proteins
Membrane Glycoproteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Nerve Tissue Proteins

Neuropeptides

Nucleic Acid Conformation

Peripherins

Phenotype

Point Mutation

Source

Open in PubMed

Identifiers

PMID: 8244346
DOI: 10.1007/BF00216463

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8244346-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa.PMID 8244346Read ↗

Analysis of peripherin/RDS gene for Japanese retinal dystrophies.Semantic proximity Read ↗

Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.Semantic proximity Read ↗

Ocular findings in patients with autosomal dominant retinitis pigmentosa and transversion mutation in codon 244 (Asn244Lys) of the peripherin/RDS gene.Semantic proximity Read ↗

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Autosomal Dominant Cone-Rod Dystrophy Associated With Mutations in Codon 244 (Asn244His) and Codon 184 (Tyr184Ser) of the Peripherin/RDS GeneSemantic proximity Read ↗

Identification of a polymorphic missense (G338D) and silent (106V and 121L) mutations within the coding region of the peripherin/RDS gene in a patient with retinitis punctata albescens.Semantic proximity Read ↗

A complex allele (1064delTC and IVS2 + 22ins7) in the peripherin/RDS gene in retinitis pigmentosa with macular dystrophy.Semantic proximity Read ↗

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