CRYBA4
crystallin beta A4
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, is part of a gene cluster with beta-B1, beta-B2, and beta-B3. [provided by RefSeq, Jul 2008]
Known Variants82 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs535337559 | 22:26,986,276 | C/T | — | — |
| rs1114167432 | 22:26,995,456 | A/G | stop lost | uncertain significance |
| rs74315488 | 22:26,995,555 | C/A | stop gained | pathogenic |
| rs1114167433 | 22:27,003,898 | G/T | missense variant | pathogenic |
| rs864309682 | 22:27,003,917 | C/T | missense variant | pathogenic |
| rs4822752 | 22:27,011,420 | C/T | regulatory region variant | — |
| rs115442700 | 22:27,018,509 | G/A | — | likely benign |
| rs530186829 | 22:27,018,586 | C/T | — | uncertain significance |
| rs773497792 | 22:27,018,587 | G/A | — | likely benign |
| rs2517431150 | 22:27,018,591 | C/A | — | uncertain significance |
| rs760976886 | 22:27,018,594 | T/A | — | uncertain significance |
| rs79804759 | 22:27,018,765 | T/C | — | benign |
| rs77606007 | 22:27,019,042 | G/A | — | benign |
| rs2071860 | 22:27,019,128 | C/T | — | benign |
| rs74847916 | 22:27,019,154 | G/A | — | benign |
| rs775074302 | 22:27,019,187 | T/C | — | likely benign |
| rs764078479 | 22:27,019,191 | G/T | — | likely benign |
| rs751503329 | 22:27,019,193 | C/T | — | benign |
| rs142090709 | 22:27,019,197 | G/C | — | likely benign |
| rs140518888 | 22:27,019,218 | C/T | — | likely benign |
| rs201421932 | 22:27,019,219 | G/A | — | conflicting classifications of pathogenicity |
| rs1602338380 | 22:27,019,223 | T/C | — | uncertain significance |
| rs138148141 | 22:27,019,239 | C/T | — | likely benign |
| rs149551651 | 22:27,019,243 | T/A | — | uncertain significance |
| rs147222776 | 22:27,019,247 | C/T | — | conflicting classifications of pathogenicity |
| rs750142704 | 22:27,019,248 | G/A | — | likely benign |
| rs757640333 | 22:27,019,263 | C/T | — | likely benign |
| rs35520672 | 22:27,019,264 | A/G | — | benign |
| rs201161420 | 22:27,019,266 | G/A | — | likely benign |
| rs1929601316 | 22:27,019,294 | T/C | — | uncertain significance |
| rs1057524710 | 22:27,019,295 | C/A | — | uncertain significance |
| rs752903519 | 22:27,019,317 | G/A | — | likely benign |
| rs78839637 | 22:27,019,374 | C/T | — | benign |
| rs75627451 | 22:27,019,487 | C/T | — | benign |
| rs74422745 | 22:27,019,498 | A/T | — | benign |
| rs186012203 | 22:27,019,514 | A/G | — | likely benign |
| rs2071861 | 22:27,021,189 | A/G | — | benign |
| rs60247117 | 22:27,021,358 | C/T | — | benign |
| rs2071862 | 22:27,021,401 | G/A | — | benign |
| rs73880140 | 22:27,021,409 | C/T | — | benign |
| rs4276 | 22:27,021,425 | A/G | — | benign |
| rs1929674480 | 22:27,021,455 | T/G | — | uncertain significance |
| rs5761637 | 22:27,021,457 | C/T | — | benign |
| rs1114167427 | 22:27,021,476 | G/T | missense variant | pathogenic |
| rs74315487 | 22:27,021,492 | T/C | missense variant | pathogenic |
| rs199635152 | 22:27,021,497 | C/T | — | uncertain significance |
| rs1929676368 | 22:27,021,500 | G/A | — | uncertain significance |
| rs148454808 | 22:27,021,502 | C/T | — | likely benign |
| rs776573050 | 22:27,021,513 | G/C | — | uncertain significance |
| rs745630849 | 22:27,021,529 | C/T | — | likely benign |
| rs1217590551 | 22:27,021,544 | C/T | — | likely benign |
| rs372922337 | 22:27,021,548 | G/T | — | conflicting classifications of pathogenicity |
| rs2145980854 | 22:27,021,563 | T/C | — | likely pathogenic |
| rs74315486 | 22:27,021,567 | T/C | missense variant | pathogenic |
| rs749066010 | 22:27,021,570 | G/A | — | uncertain significance |
| rs150525825 | 22:27,021,576 | C/T | — | likely benign |
| rs372271933 | 22:27,021,588 | T/C | — | uncertain significance |
| rs56117601 | 22:27,021,589 | A/G | — | benign |
| rs56296779 | 22:27,021,857 | G/A | — | likely benign |
| rs149353652 | 22:27,024,258 | C/T | — | likely benign |
| rs749895210 | 22:27,024,269 | G/A | — | likely benign |
| rs1156803281 | 22:27,024,270 | C/G | — | uncertain significance |
| rs143137736 | 22:27,024,275 | A/T | — | likely benign |
| rs146659565 | 22:27,024,276 | A/G | — | uncertain significance |
| rs143888002 | 22:27,024,296 | C/T | — | benign |
| rs1305546354 | 22:27,024,303 | A/G | — | uncertain significance |
| rs1200777567 | 22:27,024,335 | C/T | — | likely benign |
| rs765862216 | 22:27,024,371 | G/A | — | likely benign |
| rs2517437524 | 22:27,024,393 | G/T | — | uncertain significance |
| rs532051646 | 22:27,024,401 | G/A | — | likely benign |
| rs6005099 | 22:27,024,504 | C/T | — | benign |
| rs5752360 | 22:27,025,917 | C/G | — | — |
| rs147712887 | 22:27,026,240 | C/G | — | likely benign |
| rs75205052 | 22:27,026,286 | G/A | — | benign |
| rs780358100 | 22:27,026,324 | C/T | — | uncertain significance |
| rs117467748 | 22:27,026,325 | G/A | — | likely benign |
| rs1374906281 | 22:27,026,364 | C/G | — | uncertain significance |
| rs542069348 | 22:27,026,370 | C/T | — | likely benign |
| rs535488333 | 22:27,026,381 | A/G | — | uncertain significance |
| rs1000396697 | 22:27,026,400 | C/A | — | likely benign |
| rs758790937 | 22:27,026,435 | G/C | — | uncertain significance |
| rs111838406 | 22:27,026,675 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.