Polymorphic variation within "conserved" sequences at the 3' end of the human RDS gene which results in amino acid substitutions.

doi:10.1002/humu.1380010311

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Article

Polymorphic variation within "conserved" sequences at the 3' end of the human RDS gene which results in amino acid substitutions.

Human mutation - 1 Jan 1992

Jordan S A, Farrar G J, Kenna P, Humphries P

Abstract excerpt

The human RDS gene, previously mapped to chromosome 6p, encodes a protein found in the outer disc membrane of the photoreceptor cells of the retina. The cDNA sequence of the human gene shows 85% identity with the bovine peripherin gene and the rds (retinal degeneration slow) genes from mouse and rat. Mutations in the RDS gene have recently been implicated in autosomal dominant retinitis pigmentosa (adRP) in some...

Topics

Amino Acid Sequence
Animals
Base Sequence
Cattle
Conserved Sequence
DNA
DNA Probes
Exons
Eye Proteins
Genetic Variation
Humans
Intermediate Filament Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Membrane Glycoproteins

Mice

Molecular Sequence Data

Nerve Tissue Proteins

Pedigree

Peripherins

Source

Open in PubMed

Identifiers

PMID: 1301931
DOI: 10.1002/humu.1380010311

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1301931-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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