| Type | Description |
|---|---|
| Definition | crystallin beta B1 |
| Date | Results | Publications |
|---|---|---|
| 2018-05-26 11:04:00 | We examined a cohort of Chinese patients with congenital cataracts and studied the phenotypes and genotypes. Extralenticular abnormalities, such as microcornea and ocular coloboma, can also be found in patients with congenital cataracts. The phenotype of congenital cataracts associated with macular and optic disc coloboma was reported for the first time in this study. | 29386872 |
| 2018-04-14 11:45:00 | Our findings highlight the importance of the C-terminus in betaB1-crystallin in maintaining the crystalline function and stability, and provide a novel insight into the molecular mechanism underlying the pathogenesis of human autosomal dominant congenital cataract. | 28928627 |
| 2017-09-16 11:11:00 | CRYBB1 partial duplication ad complete duplication of CRYBA4 identified in a family with autosomal dominant congenital cataract. | 28272538 |
| 2017-06-10 12:35:00 | Molecular dynamic simulation studies indicated that the mutation decreased the subunit binding energy and modified the distribution of surface electrostatic potentials. More importantly, the mutation separated two interacting loops in the C-terminal domain, which shielded the hydrophobic core from solvent in native betaB1-crystallin. | 27318838 |
| 2017-05-20 14:54:00 | Congenital microcornea-cataract syndrome-causing mutation X253R increases betaB1-crystallin hydrophobicity to promote aggregate formation | 27208166 |
| Type | IDs |
|---|---|
| Synonymous | CATCN3, CTRCT17 |
| Gene |
UniProtKB-ID:
CRBB1_HUMAN
UniprotKB:
P53674
UniParc:
UPI000000165D
EMBL:
U35340,
BC036790,
Z95115,
CR456425,
X86398
Ensembl:
ENSG00000100122
KO:
hsa:1414
|
| Nucleutide sequences |
EMBL-CDS:
CAG30311.1,
AAH36790.1,
AAC50383.1,
CAA60150.1
Ensembl_TRS:
ENST00000647684
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000497249
RefSeq:
XP_011528201.1,
NP_001878.1
|
| Others |
UniRef100:
UniRef100_P53674
UniRef90:
UniRef90_P53674
UniRef50:
UniRef50_P53674
UniGene:
Hs.37135
CCDS:
CCDS13840.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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