CRYAA
crystallin alpha A
Summary
Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. Post-translational modifications decrease the ability to chaperone. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Defects in this gene cause autosomal dominant congenital cataract (ADCC). [provided by RefSeq, Jan 2014]
Known Variants86 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3761381 | 21:44,588,255 | C/T | upstream gene variant | — |
| rs13053109 | 21:44,588,719 | G/C | upstream gene variant | — |
| rs7278468 | 21:44,588,757 | T/G | upstream gene variant | — |
| rs151103202 | 21:44,589,148 | G/A | — | likely benign |
| rs1985729237 | 21:44,589,180 | C/G | — | uncertain significance |
| rs872331 | 21:44,589,215 | T/C | — | benign |
| rs74315440 | 21:44,589,236 | G/A | stop gained | pathogenic |
| rs397515624 | 21:44,589,243 | C/T | missense variant | pathogenic |
| rs776884812 | 21:44,589,244 | G/A | — | uncertain significance |
| rs148704068 | 21:44,589,259 | T/C | — | uncertain significance |
| rs61729442 | 21:44,589,263 | C/T | — | benign |
| rs397515625 | 21:44,589,270 | C/T | missense variant | pathogenic |
| rs397515626 | 21:44,589,271 | G/A | missense variant | pathogenic |
| rs756926049 | 21:44,589,279 | G/A | — | uncertain significance |
| rs754701447 | 21:44,589,284 | G/C | — | uncertain significance |
| rs373635187 | 21:44,589,290 | C/T | — | likely benign |
| rs151213687 | 21:44,589,320 | G/A | — | likely benign |
| rs765952577 | 21:44,589,342 | A/G | — | uncertain significance |
| rs864309685 | 21:44,589,351 | T/G | missense variant | pathogenic |
| rs74315441 | 21:44,589,354 | C/T | missense variant | pathogenic |
| rs754607706 | 21:44,589,355 | G/A | — | uncertain significance |
| rs146914780 | 21:44,589,363 | C/T | — | conflicting classifications of pathogenicity |
| rs758292459 | 21:44,589,368 | C/T | — | likely benign |
| rs397515623 | 21:44,589,369 | C/T | missense variant | pathogenic |
| rs777728814 | 21:44,589,370 | G/C | — | conflicting classifications of pathogenicity |
| rs781119593 | 21:44,589,375 | G/A | — | uncertain significance |
| rs191516889 | 21:44,589,412 | C/T | — | likely benign |
| rs377222721 | 21:44,589,413 | G/A | — | likely benign |
| rs56975193 | 21:44,589,431 | C/T | — | likely benign |
| rs73906469 | 21:44,589,469 | G/C | — | likely benign |
| rs117331253 | 21:44,589,522 | C/T | — | likely benign |
| rs11700709 | 21:44,589,569 | C/T | — | benign |
| rs116821115 | 21:44,590,366 | C/T | — | benign |
| rs544134396 | 21:44,590,477 | G/A | — | likely benign |
| rs767991104 | 21:44,590,633 | T/G | — | uncertain significance |
| rs527765691 | 21:44,590,635 | C/T | — | likely benign |
| rs747872625 | 21:44,590,636 | G/C | — | uncertain significance |
| rs376164744 | 21:44,590,639 | C/T | — | uncertain significance |
| rs61735855 | 21:44,590,650 | C/T | — | benign |
| rs752790618 | 21:44,590,662 | C/T | — | likely benign |
| rs200183640 | 21:44,590,682 | C/T | — | uncertain significance |
| rs61735856 | 21:44,590,683 | G/A | — | benign |
| rs373652078 | 21:44,590,686 | G/A | — | likely benign |
| rs886057103 | 21:44,590,706 | A/C | — | uncertain significance |
| rs758146476 | 21:44,590,722 | G/A | — | likely benign |
| rs144722442 | 21:44,590,728 | C/T | — | likely benign |
| rs398122947 | 21:44,590,729 | G/A | missense variant | pathogenic |
| rs371850725 | 21:44,590,740 | C/T | — | likely benign |
| rs3819160 | 21:44,590,921 | A/G | — | benign |
| rs73376211 | 21:44,591,896 | G/T | — | likely benign |
| rs73906472 | 21:44,591,898 | G/C | — | benign |
| rs73376213 | 21:44,592,140 | G/A | — | benign |
| rs374245405 | 21:44,592,183 | C/T | — | likely benign |
| rs145514574 | 21:44,592,189 | C/T | — | likely benign |
| rs113802426 | 21:44,592,192 | C/T | — | benign |
| rs79100529 | 21:44,592,195 | C/T | — | likely benign |
| rs200594555 | 21:44,592,203 | G/A | — | uncertain significance |
| rs74315439 | 21:44,592,214 | C/T | missense variant | pathogenic |
| rs121912973 | 21:44,592,215 | G/A | missense variant | pathogenic |
| rs760958782 | 21:44,592,217 | C/T | — | uncertain significance |
| rs369609046 | 21:44,592,223 | C/T | — | uncertain significance |
| rs761324572 | 21:44,592,237 | C/T | — | uncertain significance |
| rs886057104 | 21:44,592,243 | C/A | — | uncertain significance |
| rs377009894 | 21:44,592,248 | C/T | — | uncertain significance |
| rs2517549173 | 21:44,592,277 | G/A | — | uncertain significance |
| rs61735857 | 21:44,592,312 | T/A | — | benign |
| rs143992484 | 21:44,592,332 | C/A | — | uncertain significance |
| rs757584843 | 21:44,592,349 | G/A | — | uncertain significance |
| rs376490511 | 21:44,592,354 | G/A | — | likely benign |
| rs886057105 | 21:44,592,356 | G/A | — | uncertain significance |
| rs1329899254 | 21:44,592,374 | C/T | — | uncertain significance |
| rs1227057051 | 21:44,592,376 | G/A | — | uncertain significance |
| rs139794609 | 21:44,592,382 | T/C | — | uncertain significance |
| rs112855370 | 21:44,592,483 | G/T | — | benign |
| rs569866289 | 21:44,592,492 | T/C | — | likely benign |
| rs537385698 | 21:44,592,493 | C/T | — | likely benign |
| rs553059975 | 21:44,592,546 | T/G | — | uncertain significance |
| rs886057106 | 21:44,592,583 | G/A | — | uncertain significance |
| rs886057107 | 21:44,592,643 | C/T | — | uncertain significance |
| rs886057108 | 21:44,592,723 | G/A | — | uncertain significance |
| rs886057109 | 21:44,592,766 | G/C | — | uncertain significance |
| rs370015697 | 21:44,592,770 | G/A | — | uncertain significance |
| rs886057110 | 21:44,592,788 | G/A | — | uncertain significance |
| rs13048089 | 21:44,592,875 | A/G | — | benign |
| rs79614970 | 21:44,592,897 | C/G | — | benign |
| rs11911275 | 21:44,593,140 | A/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.