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Article

Structural role of the T94I rhodopsin mutation in congenital stationary night blindness.

EMBO reports - 1 Oct 2016

Singhal Ankita, Guo Ying, Matkovic Milos, Schertler Gebhard, Deupi Xavier, Yan Elsa Cy, Standfuss Joerg

Abstract excerpt

Congenital stationary night blindness (CSNB) is an inherited and non-progressive retinal dysfunction. Here, we present the crystal structure of CSNB-causing T94I2.61 rhodopsin in the active conformation at 2.3 Å resolution. The introduced hydrophobic side chain prolongs the lifetime of the G protein activating metarhodopsin-II state by establishing a direct van der Waals contact with K2967.43, the site of retinal...

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Share to Eye Diseases, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Diseases, X-Linked

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Share to Protein Stability

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Source

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Identifiers

PMID: 27458239
DOI: 10.15252/embr.201642671
PMCID: PMC5048376

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