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Article

A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene.

Molecular vision - 8 Apr 2004

Piña Ana Luisa, Baumert Uwe, Loyer Magali, Koenekoop Robert K

Abstract excerpt

PURPOSE: Cone transducin plays an important role in interacting with the cone photoreceptor visual pigments and activating the cGMP-dependent phosphodiesterase. The human gene for the alpha-subunit of cone transducin (GNAT2) has been cloned and characterized. Recently achromatopsia has been associated with mutations in this gene. Cone and cone-rod dystrophies are a genetically heterogeneous group of photoreceptor...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Photoreceptor Cells, Vertebrate

Share to Polymorphism, Single-Stranded Conformational

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Source

Identifiers

PMID: 15094710

Genes

GNAT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene.PMID 15094710Read ↗

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