Variant: rs121912973 

    present in Gene: CRYAA;LOC107987300
    present in Chromosome: 21
    Position on Chromosome: 43172105
    Alleles of this Variant: G/A

rs121912973 in CRYAA;LOC107987300 gene and CATARACT, AUTOSOMAL DOMINANT PMID 17724170 2007 Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.

PMID 10684623 2000 Mutation of R116C results in highly oligomerized alpha A-crystallin with modified structure and defective chaperone-like function.

PMID 11123904 2000 Structural and functional changes in the alpha A-crystallin R116C mutant in hereditary cataracts.

PMID 9467006 1998 Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.

PMID 14512969 2003 Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q.

PMID 22045060 2012 Quaternary structural parameters of the congenital cataract causing mutants of αA-crystallin.

PMID 22216983 2012 Identification of the p. R116H mutation in a Chinese family with novel variable cataract phenotype: evidence for a mutational hot spot in αA-crystallin gene.

PMID 16453125 2006 Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P.

PMID 23508780 2013 Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.

PMID 22140512 2011 Congenital cataract causing mutants of αA-crystallin/sHSP form aggregates and aggresomes degraded through ubiquitin-proteasome pathway.

PMID 17296897 2007 New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia.

PMID 18302245 2008 Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA).

PMID 20079887 2010 Effects of congenital cataract mutation R116H on alphaA-crystallin structure, function and stability.

PMID 18085469 2007 Differential binding of mutant (R116C) and wildtype alphaA crystallin to actin.

PMID 18407550 2008 A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family.

PMID 16735993 2006 A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family.