CRYBA1

crystallin beta A1

Summary

Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta acidic group member, encodes two proteins (crystallin, beta A3 and crystallin, beta A1) from a single mRNA, the latter protein is 17 aa shorter than crystallin, beta A3 and is generated by use of an alternate translation initiation site. Deletion of exons 3 and 4 causes the autosomal dominant disease 'zonular cataract with sutural opacities'. [provided by RefSeq, Jul 2008]

Known Variants49 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7281944617:27,573,619A/G—likely benign
rs36956072117:27,573,875G/A—benign
rs75754714417:27,573,919A/C—likely benign
rs808084017:27,576,019G/A—benign
rs130959436417:27,576,180A/G—uncertain significance
rs14263146117:27,576,202T/C—likely benign
rs36846935517:27,576,203G/A—benign
rs14480010117:27,576,217C/T—benign
rs13863344517:27,576,255C/T—likely benign
rs228640717:27,576,299T/G—benign
rs1772776517:27,576,962C/T—benign
rs20154819217:27,577,180G/A—benign
rs37649997417:27,577,192C/T—likely benign
rs89649835017:27,577,204C/T—uncertain significance
rs20014513917:27,577,220G/C—uncertain significance
rs14799405917:27,577,276G/A—likely benign
rs74574128417:27,577,284G/C—uncertain significance
rs18663818517:27,577,294G/A—uncertain significance
rs206892767817:27,577,300T/G—uncertain significance
rs126402591417:27,577,319G/A—pathogenic
rs254573983117:27,577,323G/A—uncertain significance
rs7281944817:27,577,334C/T—benign
rs5588561017:27,579,011T/C—likely benign
rs11627905517:27,579,051A/G—benign
rs159842546317:27,579,073C/T—likely benign
rs75943956717:27,579,175T/C—likely benign
rs254574057617:27,579,176G/A—uncertain significance
rs76527154917:27,579,185A/G—uncertain significance
rs74599139817:27,579,210C/T—uncertain significance
rs112965617:27,579,212A/G—benign
rs147374407117:27,579,230C/T—likely benign
rs126592031917:27,580,647C/G—likely benign
rs206894937817:27,580,667G/A—uncertain significance
rs14434754417:27,580,689A/G—uncertain significance
rs104779017:27,580,756C/T—benign
rs14005715117:27,580,764A/G—conflicting classifications of pathogenicity
rs138001205217:27,580,765C/A—uncertain significance
rs75548926017:27,580,771A/G—likely benign
rs11775709217:27,580,775G/A—likely benign
rs77503854517:27,580,801G/C—pathogenic
rs76185324617:27,580,817G/A—likely benign
rs11465317317:27,580,929C/T—likely benign
rs7439164817:27,581,178C/T—likely benign
rs77217624817:27,581,264T/A—uncertain significance
rs77303872617:27,581,267T/A—uncertain significance
rs14567838617:27,581,274T/C—benign
rs148126025317:27,581,315G/A—uncertain significance
rs215300976417:27,581,345C/G—likely pathogenic
rs37031004817:27,581,362C/T—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.