• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CRYBA1 (HGNC:2394) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
crystallin beta A1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
CRYB1
Alias symbols
No aliases found
%HI
8.17(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1(Read more about gnomAD LOEUF score)
Cytoband
17q11.2
Genomic Coordinates
GRCh37/hg19: chr17:27573877-27581512 NCBI Ensembl UCSC
GRCh38/hg38: chr17:29246859-29254494 NCBI Ensembl UCSC
MANE Select Transcript
NM_005208.5 ENST00000225387.8 (Read more about MANE Select)
Function
Crystallins are the dominant structural components of the vertebrate eye lens. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-17203
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
06/06/2013

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Three types of mutations in CRYBA1 have been reported in association with congenital cataracts of various types: IVS3+1 splice mutation (multiple families), IVS3+2 (one family), and a 3-base pair deletion (G91del) (multiple families) (PMIDs: 7573044, 9788845, 14598164, 15016766, 22919269, 22665976). The G91 del mutation has been shown to lead to misfolded proteins with altered hydrophobicity (PMID: 20300566, 15016766) and the splice mutations result in aberrant splicing. While the splice variants would typically be considered likely loss of function mutations, authors speculate that all of these mutations likely lead to protein aggregation as the mechanism for cataract formation. It is not clear that a whole gene deletion or mutation that results in loss of protein would have this same effect.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000017.10) (NC_000017.11)