High-resolution X-ray crystal structures of human gammaD crystallin (1.25 A) and the R58H mutant (1.15 A) associated with aculeiform cataract.

doi:10.1016/s0022-2836(03)00375-9

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Article

High-resolution X-ray crystal structures of human gammaD crystallin (1.25 A) and the R58H mutant (1.15 A) associated with aculeiform cataract.

Journal of molecular biology - 16 May 2003

Basak Ajit, Bateman Orval, Slingsby Christine, Pande Ajay, Asherie Neer, Ogun Olutayo, Benedek George B, Pande Jayanti

Abstract excerpt

Several human cataracts have been linked to mutations in the gamma crystallin gene. One of these is the aculeiform cataract, which is caused by an R58H mutation in gammaD crystallin. We have shown previously that this cataract is caused by crystallization of the mutant protein, which is an order...

Topics

Amino Acid Substitution
Cataract
Crystallography, X-Ray
Humans
In Vitro Techniques
Models, Molecular
Mutation
Recombinant Proteins
Solubility
Static Electricity
Water
gamma-Crystallins

Source

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Identifiers

PMID: 12729747
DOI: 10.1016/s0022-2836(03)00375-9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-12729747-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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