CRYBA1 |
- 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)