CRYBA1 (crystallin beta A1) - Rat Genome Database

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Gene: CRYBA1 (crystallin beta A1) Homo sapiens
Analyze
Symbol: CRYBA1
Name: crystallin beta A1
RGD ID: 736650
HGNC Page HGNC:2394
Description: Predicted to enable identical protein binding activity. Predicted to be a structural constituent of eye lens. Predicted to be involved in lens development in camera-type eye and visual perception. Predicted to act upstream of or within camera-type eye development. Predicted to be located in cytoplasm and nucleus. Implicated in cataract and cataract 10 multiple types. Biomarker of cataract.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: beta crystallin A3 chain transcript CN; beta crystallin A3 chain transcript LAM; beta crystallin A3 chain transcript PS; beta crystallin A3 chain transcript TC; beta-crystallin A3; CRYB1; crystallin beta A3; crystallin beta A3/A1; crystallin, beta A1; crystallin, beta A3; CTRCT10; eye lens structural protein; truncated beta crystallin A3/A1 chain; truncated beta-crystallin A3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381729,246,859 - 29,254,494 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1729,246,859 - 29,254,494 (+)EnsemblGRCh38hg38GRCh38
GRCh371727,573,877 - 27,581,512 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361724,598,001 - 24,605,638 (+)NCBINCBI36Build 36hg18NCBI36
Build 341724,598,000 - 24,605,626NCBI
Celera1724,433,393 - 24,441,030 (+)NCBICelera
Cytogenetic Map17q11.2NCBI
HuRef1723,782,531 - 23,790,168 (+)NCBIHuRef
CHM1_11727,636,586 - 27,644,223 (+)NCBICHM1_1
T2T-CHM13v2.01730,189,627 - 30,197,262 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (ISS)
nucleus  (ISS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Mutation in the betaA3/A1-crystallin encoding gene Cryba1 causes a dominant cataract in the mouse. Graw J, etal., Genomics 1999 Nov 15;62(1):67-73.
3. A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree. Gu Z, etal., Mol Vis. 2010 Feb 5;16:154-60.
4. Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. Litt M, etal., Hum Mol Genet. 1997 May;6(5):665-8.
5. Retinal gene profiling in a hereditary rodent model of elevated intraocular pressure. Naskar R and Thanos S, Mol Vis. 2006 Oct 18;12:1199-210.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. A spontaneous mutation affects programmed cell death during development of the rat eye. Sinha D, etal., Exp Eye Res. 2005 Mar;80(3):323-35. doi: 10.1016/j.exer.2004.09.014.
11. betaA3/A1-crystallin in astroglial cells regulates retinal vascular remodeling during development. Sinha D, etal., Mol Cell Neurosci. 2008 Jan;37(1):85-95. Epub 2007 Aug 31.
12. Establishment of a recessive mutant small-eye rat with lens involution and retinal detachment associated with partial deletion and rearrangement of the Cryba1 gene. Yamada T, etal., Biochem J. 2015 Oct 15;471(2):293-305. doi: 10.1042/BJ20150165. Epub 2015 Aug 24.
13. A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family. Yang G, etal., Mol Vis. 2011;17:1559-63. Epub 2011 Jun 9.
14. A G-->T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family. Yang Z, etal., Mol Vis. 2011;17:2065-71. Epub 2011 Aug 5.
15. A novel T-->G splice site mutation of CRYBA1/A3 associated with autosomal dominant nuclear cataracts in a Chinese family. Yang Z, etal., Mol Vis. 2012;18:1283-8. Epub 2012 May 15.
16. Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYbetaA3/A1. Yu Y, etal., Mol Vis. 2012;18:2213-20. Epub 2012 Aug 8.
17. Differential proteomics analysis of proteins from human diabetic and age-related cataractous lenses. Zhu J, etal., J Res Med Sci. 2013 Nov;18(11):984-9.
18. Mutation in the βA3/A1-crystallin gene impairs phagosome degradation in the retinal pigmented epithelium of the rat. Zigler JS, etal., J Cell Sci. 2011 Feb 15;124(Pt 4):523-31. doi: 10.1242/jcs.078790. Epub 2011 Jan 25.
Additional References at PubMed
PMID:2055112   PMID:3745196   PMID:3770741   PMID:8623885   PMID:8889548   PMID:8961355   PMID:8999933   PMID:9788845   PMID:10525151   PMID:11424921   PMID:12060738   PMID:12477932  
PMID:14598164   PMID:15016766   PMID:15111599   PMID:15489334   PMID:15576560   PMID:17046756   PMID:17207965   PMID:17616172   PMID:17653060   PMID:18162101   PMID:18401461   PMID:18567786  
PMID:18587492   PMID:18823128   PMID:18949065   PMID:19190732   PMID:19401464   PMID:19548648   PMID:20300566   PMID:21139689   PMID:21139983   PMID:21516116   PMID:21873635   PMID:22032798  
PMID:24926697   PMID:25416956   PMID:25450505   PMID:25910212   PMID:26022148   PMID:26657544   PMID:26851658   PMID:28120589   PMID:29364738   PMID:31488069   PMID:32296183   PMID:33827296  
PMID:34419537   PMID:34489339  


Genomics

Comparative Map Data
CRYBA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381729,246,859 - 29,254,494 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1729,246,859 - 29,254,494 (+)EnsemblGRCh38hg38GRCh38
GRCh371727,573,877 - 27,581,512 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361724,598,001 - 24,605,638 (+)NCBINCBI36Build 36hg18NCBI36
Build 341724,598,000 - 24,605,626NCBI
Celera1724,433,393 - 24,441,030 (+)NCBICelera
Cytogenetic Map17q11.2NCBI
HuRef1723,782,531 - 23,790,168 (+)NCBIHuRef
CHM1_11727,636,586 - 27,644,223 (+)NCBICHM1_1
T2T-CHM13v2.01730,189,627 - 30,197,262 (+)NCBIT2T-CHM13v2.0
Cryba1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391177,609,440 - 77,616,119 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1177,609,441 - 77,616,109 (-)EnsemblGRCm39 Ensembl
GRCm381177,718,614 - 77,725,293 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1177,718,615 - 77,725,283 (-)EnsemblGRCm38mm10GRCm38
MGSCv371177,532,234 - 77,538,795 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361177,534,927 - 77,541,488 (-)NCBIMGSCv36mm8
Celera1185,217,233 - 85,223,794 (-)NCBICelera
Cytogenetic Map11B5NCBI
cM Map1146.74NCBI
Cryba1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81063,106,465 - 63,113,020 (-)NCBIGRCr8
mRatBN7.21062,608,373 - 62,614,726 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1062,608,383 - 62,614,726 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1067,240,414 - 67,246,766 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01066,745,921 - 66,752,273 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01062,215,925 - 62,222,276 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01065,160,777 - 65,167,504 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1065,161,152 - 65,167,494 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01066,458,061 - 66,480,390 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41063,758,929 - 63,765,451 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11063,772,566 - 63,776,395 (-)NCBI
Celera1061,589,011 - 61,595,363 (-)NCBICelera
Cytogenetic Map10q24NCBI
Cryba1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554813,952,988 - 3,959,764 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554813,952,976 - 3,986,548 (-)NCBIChiLan1.0ChiLan1.0
CRYBA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21935,206,029 - 35,214,046 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11737,077,466 - 37,095,190 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01727,522,647 - 27,530,767 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11728,032,799 - 28,040,525 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1728,032,809 - 28,040,525 (-)Ensemblpanpan1.1panPan2
CRYBA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1943,372,507 - 43,378,561 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl943,372,505 - 43,378,590 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha942,527,304 - 42,533,358 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0944,189,857 - 44,195,902 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl944,189,855 - 44,195,929 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1942,972,718 - 42,978,772 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0943,264,979 - 43,271,025 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0943,344,166 - 43,350,220 (+)NCBIUU_Cfam_GSD_1.0
Cryba1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560242,514,188 - 42,522,476 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365385,392,105 - 5,400,070 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365385,392,159 - 5,400,583 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CRYBA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1245,466,520 - 45,473,092 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11245,466,051 - 45,473,110 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21229,178,767 - 29,181,605 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CRYBA1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11623,005,892 - 23,011,357 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1623,003,874 - 23,011,206 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660757,093,414 - 7,100,122 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cryba1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247861,771,328 - 1,777,503 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247861,757,272 - 1,777,735 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CRYBA1
51 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
CRYBA1, IVS3DS, G-A, +1 deletion Cataract, congenital zonular, with sutural opacities [RCV000018463] Chr17:17q11.1-q12 pathogenic
CRYBA1, 3-BP DEL, 278GGA deletion Cataract 10 multiple types [RCV000018464] Chr17:17q11.1-q12 pathogenic
NM_005208.5(CRYBA1):c.643C>T (p.Gln215Ter) single nucleotide variant not provided [RCV000727935] Chr17:29254344 [GRCh38]
Chr17:27581362 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_005208.5(CRYBA1):c.475G>A (p.Gly159Ser) single nucleotide variant Cataract 10 multiple types [RCV000059343]|not specified [RCV000245606] Chr17:29253757 [GRCh38]
Chr17:29253757..29253758 [GRCh38]
Chr17:27580775 [GRCh37]
Chr17:27580775..27580776 [GRCh37]
Chr17:17q11.2		 benign|likely benign|uncertain significance
NM_005208.5(CRYBA1):c.588_591del (p.Arg196fs) microsatellite not provided [RCV000171484] Chr17:29254286..29254289 [GRCh38]
Chr17:27581304..27581307 [GRCh37]
Chr17:17q11.2		 likely pathogenic
NM_005208.5(CRYBA1):c.367G>A (p.Glu123Lys) single nucleotide variant Cataract 10 multiple types [RCV001333364] Chr17:29253649 [GRCh38]
Chr17:27580667 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1 copy number loss See cases [RCV000143027] Chr17:28947825..32490020 [GRCh38]
Chr17:27274843..30817038 [GRCh37]
Chr17:24298969..27841151 [NCBI36]
Chr17:17q11.2		 pathogenic
GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3 copy number gain not provided [RCV000762776] Chr17:25403446..31685464 [GRCh37]
Chr17:17q11.1-11.2		 likely pathogenic
NM_005208.5(CRYBA1):c.215+1G>A single nucleotide variant CRYBA1-related disorder [RCV003892402]|Cataract 10 multiple types [RCV000018463]|Inborn genetic diseases [RCV000622844]|not provided [RCV001541137] Chr17:29250301 [GRCh38]
Chr17:27577319 [GRCh37]
Chr17:17q11.2		 pathogenic
NM_005208.5(CRYBA1):c.456C>T (p.Gly152=) single nucleotide variant Cataract 10 multiple types [RCV001520818]|not provided [RCV000837952]|not specified [RCV000253574] Chr17:29253738 [GRCh38]
Chr17:27580756 [GRCh37]
Chr17:17q11.2		 benign
NM_005208.5(CRYBA1):c.501-42C>T single nucleotide variant not provided [RCV001571438] Chr17:29254160 [GRCh38]
Chr17:27581178 [GRCh37]
Chr17:17q11.2		 likely benign
NM_005208.5(CRYBA1):c.215+16C>T single nucleotide variant Cataract 10 multiple types [RCV002058181]|not provided [RCV001597012]|not specified [RCV000249832] Chr17:29250316 [GRCh38]
Chr17:27577334 [GRCh37]
Chr17:17q11.2		 benign
NM_005208.5(CRYBA1):c.74C>T (p.Pro25Leu) single nucleotide variant Cataract 10 multiple types [RCV000545686]|not provided [RCV001571447]|not specified [RCV000250150] Chr17:29249184 [GRCh38]
Chr17:27576202 [GRCh37]
Chr17:17q11.2		 benign|likely benign
NM_005208.5(CRYBA1):c.500+1G>A single nucleotide variant Cataract 10 multiple types [RCV000490399] Chr17:29253783 [GRCh38]
Chr17:27580801 [GRCh37]
Chr17:17q11.2		 likely pathogenic
NM_005208.5(CRYBA1):c.269GAG[1] (p.Gly91del) microsatellite Cataract 10 multiple types [RCV001040033]|not provided [RCV000488356] Chr17:29252117..29252119 [GRCh38]
Chr17:27579135..27579137 [GRCh37]
Chr17:17q11.2		 pathogenic|likely pathogenic
NM_005208.5(CRYBA1):c.530_538del (p.Arg177_Tyr179del) deletion Cataract 10 multiple types [RCV000530803] Chr17:29254227..29254235 [GRCh38]
Chr17:27581245..27581253 [GRCh37]
Chr17:17q11.2		 likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1 copy number loss Mitogen-activated protein kinase kinase inhibitor response [RCV000626439] Chr17:25248166..30645676 [GRCh37]
Chr17:17q11.1-11.2		 drug response
NM_005208.5(CRYBA1):c.389A>G (p.Glu130Gly) single nucleotide variant Inborn genetic diseases [RCV003290785] Chr17:29253671 [GRCh38]
Chr17:27580689 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_005208.5(CRYBA1):c.607_608del (p.Gln203fs) deletion Cataract 10 multiple types [RCV000678553] Chr17:29254308..29254309 [GRCh38]
Chr17:27581326..27581327 [GRCh37]
Chr17:17q11.2		 pathogenic
NM_005208.5(CRYBA1):c.215+1G>T single nucleotide variant Cataract 10 multiple types [RCV000694288] Chr17:29250301 [GRCh38]
Chr17:27577319 [GRCh37]
Chr17:17q11.2		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_005208.5(CRYBA1):c.500+129C>T single nucleotide variant not provided [RCV001566875] Chr17:29253911 [GRCh38]
Chr17:27580929 [GRCh37]
Chr17:17q11.2		 likely benign
NM_005208.5(CRYBA1):c.216-9C>T single nucleotide variant not provided [RCV000926246] Chr17:29252055 [GRCh38]
Chr17:27579073 [GRCh37]
Chr17:17q11.2		 likely benign
NM_005208.5(CRYBA1):c.31+7A>C single nucleotide variant not provided [RCV000937728] Chr17:29246901 [GRCh38]
Chr17:27573919 [GRCh37]
Chr17:17q11.2		 likely benign
NM_005208.5(CRYBA1):c.97-8C>T single nucleotide variant Cataract 10 multiple types [RCV002068628]|not provided [RCV000842585] Chr17:29250174 [GRCh38]
Chr17:27577192 [GRCh37]
Chr17:17q11.2		 benign|likely benign
NM_005208.5(CRYBA1):c.590_591del (p.Glu197fs) microsatellite Cataract 10 multiple types [RCV000824154] Chr17:29254286..29254287 [GRCh38]
Chr17:27581304..27581305 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3 copy number gain not provided [RCV000846852] Chr17:21690653..38772647 [GRCh37]
Chr17:17p11.2-q21.2		 pathogenic
NM_005208.5(CRYBA1):c.216-71C>T single nucleotide variant not provided [RCV001576184] Chr17:29251993 [GRCh38]
Chr17:27579011 [GRCh37]
Chr17:17q11.2		 likely benign
NM_005208.5(CRYBA1):c.500+1G>C single nucleotide variant Cataract 10 multiple types [RCV003992534]|not provided [RCV001579516] Chr17:29253783 [GRCh38]
Chr17:27580801 [GRCh37]
Chr17:17q11.2		 likely pathogenic
NC_000017.11:g.29254568del deletion not provided [RCV001567432] Chr17:29254553 [GRCh38]
Chr17:27581571 [GRCh37]
Chr17:17q11.2		 likely benign
NM_005208.5(CRYBA1):c.626C>G (p.Ser209Trp) single nucleotide variant Cataract 10 multiple types [RCV001542604] Chr17:29254327 [GRCh38]
Chr17:27581345 [GRCh37]
Chr17:17q11.2		 likely pathogenic
NM_005208.5(CRYBA1):c.147del (p.Ser50fs) deletion not provided [RCV001569097] Chr17:29250231 [GRCh38]
Chr17:27577249 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_005208.5(CRYBA1):c.216-31A>G single nucleotide variant not provided [RCV001694046] Chr17:29252033 [GRCh38]
Chr17:27579051 [GRCh37]
Chr17:17q11.2		 benign
NM_005208.5(CRYBA1):c.89C>T (p.Pro30Leu) single nucleotide variant Cataract 10 multiple types [RCV002539124] Chr17:29249199 [GRCh38]
Chr17:27576217 [GRCh37]
Chr17:17q11.2		 benign
NM_005208.5(CRYBA1):c.96+31C>T single nucleotide variant not provided [RCV001562003] Chr17:29249237 [GRCh38]
Chr17:27576255 [GRCh37]
Chr17:17q11.2		 likely benign
NC_000017.11:g.29246601A>G single nucleotide variant not provided [RCV001560177] Chr17:29246601 [GRCh38]
Chr17:27573619 [GRCh37]
Chr17:17q11.2		 likely benign
NM_005208.5(CRYBA1):c.96+75T>G single nucleotide variant not provided [RCV001620115] Chr17:29249281 [GRCh38]
Chr17:27576299 [GRCh37]
Chr17:17q11.2		 benign
NM_005208.5(CRYBA1):c.97-238T>C single nucleotide variant not provided [RCV001674059] Chr17:29249944 [GRCh38]
Chr17:29249944..29249945 [GRCh38]
Chr17:27576962 [GRCh37]
Chr17:27576962..27576963 [GRCh37]
Chr17:17q11.2		 benign
NM_005208.5(CRYBA1):c.97-287del deletion not provided [RCV001659180] Chr17:29249895 [GRCh38]
Chr17:27576913 [GRCh37]
Chr17:17q11.2		 benign
NM_005208.5(CRYBA1):c.32-141G>A single nucleotide variant not provided [RCV001681742] Chr17:29249001 [GRCh38]
Chr17:27576019 [GRCh37]
Chr17:17q11.2		 benign
NM_005208.5(CRYBA1):c.197T>G (p.Leu66Arg) single nucleotide variant Cataract 10 multiple types [RCV001038285] Chr17:29250282 [GRCh38]
Chr17:27577300 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3 copy number gain not provided [RCV001006886] Chr17:25274363..28450707 [GRCh37]
Chr17:17q11.1-11.2		 pathogenic
GRCh37/hg19 17q11.2(chr17:27573641-28206747)x3 copy number gain not provided [RCV001259333] Chr17:27573641..28206747 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_005208.5(CRYBA1):c.465C>A (p.Asn155Lys) single nucleotide variant Cataract 10 multiple types [RCV001326218] Chr17:29253747 [GRCh38]
Chr17:27580765 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_005208.5(CRYBA1):c.555T>C (p.Cys185=) single nucleotide variant Cataract 10 multiple types [RCV001521602] Chr17:29254256 [GRCh38]
Chr17:27581274 [GRCh37]
Chr17:17q11.2		 benign
NM_005208.5(CRYBA1):c.31+7A>G single nucleotide variant Cataract 10 multiple types [RCV001428924] Chr17:29246901 [GRCh38]
Chr17:27573919 [GRCh37]
Chr17:17q11.2		 likely benign
NM_005208.5(CRYBA1):c.309T>C (p.Asn103=) single nucleotide variant Cataract 10 multiple types [RCV001483516] Chr17:29252157 [GRCh38]
Chr17:27579175 [GRCh37]
Chr17:17q11.2		 likely benign
NC_000017.11:g.29254568dup duplication not provided [RCV001616111] Chr17:29254552..29254553 [GRCh38]
Chr17:27581570..27581571 [GRCh37]
Chr17:17q11.2		 benign
NM_005208.5(CRYBA1):c.75G>A (p.Pro25=) single nucleotide variant CRYBA1-related disorder [RCV003921106]|Cataract 10 multiple types [RCV001514218] Chr17:29249185 [GRCh38]
Chr17:27576203 [GRCh37]
Chr17:17q11.2		 benign|likely benign
NM_005208.5(CRYBA1):c.464A>G (p.Asn155Ser) single nucleotide variant Cataract 10 multiple types [RCV001459029]|Inborn genetic diseases [RCV002560353] Chr17:29253746 [GRCh38]
Chr17:27580764 [GRCh37]
Chr17:17q11.2		 likely benign|uncertain significance
NM_005208.5(CRYBA1):c.215+1G>C single nucleotide variant CRYBA1-related disorder [RCV003898364]|Cataract 10 multiple types [RCV001385882] Chr17:29250301 [GRCh38]
Chr17:27577319 [GRCh37]
Chr17:17q11.2		 pathogenic
NC_000017.10:g.(?_27573882)_(29576157_?)del deletion Neurofibromatosis, type 1 [RCV003109263] Chr17:27573882..29576157 [GRCh37]
Chr17:17q11.2		 pathogenic
NM_005208.5(CRYBA1):c.258del (p.Phe86fs) deletion Cataract 10 multiple types [RCV001780883] Chr17:29252104 [GRCh38]
Chr17:27579122 [GRCh37]
Chr17:17q11.2		 likely pathogenic
NM_005208.5(CRYBA1):c.500+1G>T single nucleotide variant Cataract 10 multiple types [RCV001814654] Chr17:29253783 [GRCh38]
Chr17:27580801 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_005208.5(CRYBA1):c.548T>C (p.Leu183Ser) single nucleotide variant Cataract 10 multiple types [RCV001984954] Chr17:29254249 [GRCh38]
Chr17:27581267 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232) copy number gain not specified [RCV002052591] Chr17:21690653..28281232 [GRCh37]
Chr17:17p11.2-q11.2		 pathogenic
NM_005208.5(CRYBA1):c.490_491del (p.Gln164fs) deletion Cataract 10 multiple types [RCV001888290] Chr17:29253771..29253772 [GRCh38]
Chr17:27580789..27580790 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_005208.5(CRYBA1):c.344C>T (p.Pro115Leu) single nucleotide variant Cataract 10 multiple types [RCV001971881] Chr17:29252192 [GRCh38]
Chr17:27579210 [GRCh37]
Chr17:17q11.2		 uncertain significance
NC_000017.10:g.(?_27579473)_(27581294_?)del deletion Cataract 10 multiple types [RCV001936869] Chr17:27579473..27581294 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_005208.5(CRYBA1):c.548T>A (p.Leu183Ter) single nucleotide variant Cataract 10 multiple types [RCV001885687] Chr17:29254249 [GRCh38]
Chr17:27581267 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_005208.5(CRYBA1):c.471A>G (p.Glu157=) single nucleotide variant Cataract 10 multiple types [RCV002104641] Chr17:29253753 [GRCh38]
Chr17:27580771 [GRCh37]
Chr17:17q11.2		 likely benign
NM_005208.5(CRYBA1):c.500+17G>A single nucleotide variant Cataract 10 multiple types [RCV002191377] Chr17:29253799 [GRCh38]
Chr17:27580817 [GRCh37]
Chr17:17q11.2		 likely benign
NM_005208.5(CRYBA1):c.357+7C>T single nucleotide variant Cataract 10 multiple types [RCV002133509] Chr17:29252212 [GRCh38]
Chr17:27579230 [GRCh37]
Chr17:17q11.2		 likely benign
NM_005208.5(CRYBA1):c.97-20G>A single nucleotide variant Cataract 10 multiple types [RCV002122640] Chr17:29250162 [GRCh38]
Chr17:27577180 [GRCh37]
Chr17:17q11.2		 benign
NM_005208.5(CRYBA1):c.173G>A (p.Arg58His) single nucleotide variant CRYBA1-related disorder [RCV003933347]|Cataract 10 multiple types [RCV002219048] Chr17:29250258 [GRCh38]
Chr17:27577276 [GRCh37]
Chr17:17q11.2		 likely benign
NC_000017.10:g.(?_26684694)_(27581367_?)dup duplication not provided [RCV003116316] Chr17:26684694..27581367 [GRCh37]
Chr17:17q11.2		 uncertain significance
NC_000017.10:g.(?_26684694)_(29701173_?)dup duplication not provided [RCV003123018] Chr17:26684694..29701173 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_005208.5(CRYBA1):c.501-2_522del deletion Cataract 10 multiple types [RCV002466853] Chr17:29254196..29254219 [GRCh38]
Chr17:27581214..27581237 [GRCh37]
Chr17:17q11.2		 likely pathogenic
GRCh37/hg19 17q11.2(chr17:27552278-27842559)x3 copy number gain not provided [RCV002474966] Chr17:27552278..27842559 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_005208.5(CRYBA1):c.191G>A (p.Arg64Gln) single nucleotide variant Inborn genetic diseases [RCV002689681] Chr17:29250276 [GRCh38]
Chr17:27577294 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_005208.5(CRYBA1):c.310G>A (p.Ala104Thr) single nucleotide variant Cataract 10 multiple types [RCV003032856] Chr17:29252158 [GRCh38]
Chr17:27579176 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_005208.5(CRYBA1):c.545T>A (p.Ile182Asn) single nucleotide variant Inborn genetic diseases [RCV002941234] Chr17:29254246 [GRCh38]
Chr17:27581264 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_005208.5(CRYBA1):c.346A>G (p.Ile116Val) single nucleotide variant Cataract 10 multiple types [RCV002942117] Chr17:29252194 [GRCh38]
Chr17:27579212 [GRCh37]
Chr17:17q11.2		 benign
NM_005208.5(CRYBA1):c.596G>A (p.Gly199Asp) single nucleotide variant Inborn genetic diseases [RCV003194775] Chr17:29254297 [GRCh38]
Chr17:27581315 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3 copy number gain Developmental delay with or without intellectual impairment or behavioral abnormalities [RCV003329553] Chr17:25263507..27829791 [GRCh37]
Chr17:17q11.1-11.2		 uncertain significance
NM_005208.5(CRYBA1):c.319A>G (p.Ile107Val) single nucleotide variant Inborn genetic diseases [RCV003360487] Chr17:29252167 [GRCh38]
Chr17:27579185 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_005208.5(CRYBA1):c.117G>C (p.Glu39Asp) single nucleotide variant Inborn genetic diseases [RCV003354129] Chr17:29250202 [GRCh38]
Chr17:27577220 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_005208.5(CRYBA1):c.215+5G>A single nucleotide variant Cataract 10 multiple types [RCV003516861] Chr17:29250305 [GRCh38]
Chr17:27577323 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_005208.5(CRYBA1):c.358-11C>G single nucleotide variant Cataract 10 multiple types [RCV003631589] Chr17:29253629 [GRCh38]
Chr17:27580647 [GRCh37]
Chr17:17q11.2		 likely benign
NM_005208.5(CRYBA1):c.101C>T (p.Thr34Ile) single nucleotide variant Cataract 10 multiple types [RCV003631442] Chr17:29250186 [GRCh38]
Chr17:27577204 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_005208.4(CRYBA1):c.-7G>A single nucleotide variant CRYBA1-related disorder [RCV003914700] Chr17:29246857 [GRCh38]
Chr17:27573875 [GRCh37]
Chr17:17q11.2		 benign
NM_005208.5(CRYBA1):c.181G>C (p.Asp61His) single nucleotide variant Inborn genetic diseases [RCV004370033] Chr17:29250266 [GRCh38]
Chr17:27577284 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_005208.5(CRYBA1):c.52A>G (p.Met18Val) single nucleotide variant Inborn genetic diseases [RCV004370034] Chr17:29249162 [GRCh38]
Chr17:27576180 [GRCh37]
Chr17:17q11.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:352
Count of miRNA genes:231
Interacting mature miRNAs:242
Transcripts:ENST00000225387, ENST00000484605
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407191044GWAS840020_Heye measurement QTL GWAS840020 (human)2e-17eye measurementeye measurement (CMO:0003079)172925375729253758Human
1298406BP16_HBlood pressure QTL 16 (human)0.0004Blood pressurehypertension susceptibility171477864740778647Human
407115069GWAS764045_Hmean reticulocyte volume QTL GWAS764045 (human)4e-15reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)172925199329251994Human
407016536GWAS665512_Hunipolar depression QTL GWAS665512 (human)9e-09unipolar depression172924994429249945Human
407004584GWAS653560_Htestosterone measurement QTL GWAS653560 (human)3e-10testosterone measurementserum testosterone level (CMO:0000568)172925199329251994Human

Markers in Region
RH79897  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371727,581,366 - 27,581,615UniSTSGRCh37
Build 361724,605,492 - 24,605,741RGDNCBI36
Celera1724,440,884 - 24,441,133RGD
Cytogenetic Map17q11.2UniSTS
HuRef1723,790,022 - 23,790,271UniSTS
GDB:180957  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371727,576,877 - 27,577,114UniSTSGRCh37
Build 361724,601,003 - 24,601,240RGDNCBI36
Celera1724,436,395 - 24,436,632RGD
Cytogenetic Map17q11.2UniSTS
HuRef1723,785,533 - 23,785,770UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
709 1698 1546 1532 3306 1195 1713 4 396 1273 294 1267 4668 4256 18 2613 591 1284 1208 109 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU735083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM230602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM230603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM230604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM230605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR052801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR052802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR052803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR052804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR336660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR336661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX119959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U59058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000225387   ⟹   ENSP00000225387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1729,246,859 - 29,254,494 (+)Ensembl
Ensembl Acc Id: ENST00000484605   ⟹   ENSP00000464368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1729,246,874 - 29,254,494 (+)Ensembl
RefSeq Acc Id: NM_005208   ⟹   NP_005199
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381729,246,859 - 29,254,494 (+)NCBI
GRCh371727,573,875 - 27,581,512 (+)ENTREZGENE
Build 361724,598,001 - 24,605,638 (+)NCBI Archive
HuRef1723,782,531 - 23,790,168 (+)ENTREZGENE
CHM1_11727,636,586 - 27,644,223 (+)NCBI
T2T-CHM13v2.01730,189,627 - 30,197,262 (+)NCBI
Sequence:
RefSeq Acc Id: NP_005199   ⟸   NM_005208
- UniProtKB: Q13633 (UniProtKB/Swiss-Prot),   Q14CM9 (UniProtKB/Swiss-Prot),   P05813 (UniProtKB/Swiss-Prot),   A0A097PIJ9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000464368   ⟸   ENST00000484605
Ensembl Acc Id: ENSP00000225387   ⟸   ENST00000225387
Protein Domains
Beta/gamma crystallin 'Greek key'

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P05813-F1-model_v2 AlphaFold P05813 1-215 view protein structure

Promoters
RGD ID:7234477
Promoter ID:EPDNEW_H22984
Type:single initiation site
Name:CRYBA1_1
Description:crystallin beta A1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381729,246,859 - 29,246,919EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2394 AgrOrtholog
COSMIC CRYBA1 COSMIC
Ensembl Genes ENSG00000108255 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000225387 ENTREZGENE
  ENST00000225387.8 UniProtKB/Swiss-Prot
  ENST00000484605.1 UniProtKB/TrEMBL
Gene3D-CATH Crystallins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000108255 GTEx
HGNC ID HGNC:2394 ENTREZGENE
Human Proteome Map CRYBA1 Human Proteome Map
InterPro Beta/Gamma-Crystallin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Beta/gamma_crystallin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_crystallin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1411 UniProtKB/Swiss-Prot
NCBI Gene 1411 ENTREZGENE
OMIM 123610 OMIM
PANTHER BETA-CRYSTALLIN A3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BETA/GAMMA CRYSTALLIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Crystall UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26908 PharmGKB
PRINTS BGCRYSTALLIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CRYSTALLIN_BETA_GAMMA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART XTALbg UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49695 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A097PIG2_HUMAN UniProtKB/TrEMBL
  A0A097PIJ4_HUMAN UniProtKB/TrEMBL
  A0A097PIJ9 ENTREZGENE, UniProtKB/TrEMBL
  A0A0H3W5G3_HUMAN UniProtKB/TrEMBL
  A0A0H3W5J3_HUMAN UniProtKB/TrEMBL
  A0A0H3W5R0_HUMAN UniProtKB/TrEMBL
  A0A0H3W5S2_HUMAN UniProtKB/TrEMBL
  A0A0H3W5U2_HUMAN UniProtKB/TrEMBL
  CRBA1_HUMAN UniProtKB/Swiss-Prot
  J3QRT1_HUMAN UniProtKB/TrEMBL
  P05813 ENTREZGENE
  Q13633 ENTREZGENE
  Q14CM9 ENTREZGENE
UniProt Secondary Q13633 UniProtKB/Swiss-Prot
  Q14CM9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 CRYBA1  crystallin beta A1  CRYBA1  crystallin, beta A1  Symbol and/or name change 5135510 APPROVED