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Article

The mutation V42M distorts the compact packing of the human gamma-S-crystallin molecule, resulting in congenital cataract.

PloS one - 1 Jan 2012

Vendra Venkata Pulla Rao, Chandani Sushil, Balasubramanian Dorairajan

Abstract excerpt

BACKGROUND: Human γS-crystallin is an important component of the human eye lens nucleus and cortex. The mutation V42M in the molecule causes severe congenital cataract in children. We compare the structure of the mutant protein with that of the wild type in order to understand how structural changes in the mutant relate to the mechanism of opacification. METHODS: Both proteins were made using conventional cloning...

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Identifiers

PMID: 23284690
DOI: 10.1371/journal.pone.0051401
PMCID: PMC3528740

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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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The mutation V42M distorts the compact packing of the human gamma-S-crystallin molecule, resulting in congenital cataract.PMID 23284690Read ↗

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