Property Summary

NCBI Gene PubMed Count 37
Grant Count 42
R01 Count 22
Funding $13,881,892.01
PubMed Score 100.18
PubTator Score 50.24

Knowledge Summary

Patent (2,652)

Expression

Gene RIF (29)

PMID Text
25558176 Eight different mutations were detected in the CNGB3 gene in achromatopsia, including five novel mutations: two splice site mutations, one nonsense substitution, and two frame-shift mutations.
24676353 Genetic testing revealed a common homozygous mutation in CNGB3 in 5 patients with complete achromatopsia and heterozygous mutations in CNGA3 in 2 patients with incomplete achromatopsia.
24664743 Genetic testing performed at Carver lab at the University of Iowa confirmed a diagnosis of achromatopsia with identical mutations in the CNGB3 gene.
23940504 Data found pathogenic DNA variants in the genes RP1, USH2A, CNGB3, NMNAT1, CHM, and ABCA4, responsible for retinitis pigmentosa, Usher syndrome, achromatopsia, Leber congenital amaurosis, choroideremia, or recessive Stargardt/cone-rod dystrophy cases.
23805033 Achromatopsia associated F525N and T383fsX mutations in the CNGB3 subunit of cone photoreceptor cyclic nucleotide-gated (CNG) channels increases susceptibility to cell death in photoreceptor-derived cells.
23362848 The majority (n = 12) of patients were either homozygotes or compound heterozygotes for known achromatopsia alleles, two in CNGB3 (p.T383fsX and p.T296YfsX9) and three in CNGA3 (p.R283Q, p.R427C and p.L527R).
21267001 Missense mutations, nonsense mutations, splice mutations, and small deletions and insertions in the affected genes cause achromatopsia.
20801516 Observational study of genetic testing. (HuGE Navigator)
20454696 Genetic analysis of two Pakistani families with retinal disease enabled the establishment of the correct diagnosis of achromatopsia. Two novel mutations were identified in CNGA3 and CNGB3 that are both specifically expressed in cone photoreceptors.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
More...

AA Sequence

MFKSLTKVNKVKPIGENNENEQSSRRNEEGSHPSNQSQQTTAQEENKGEEKSLKTKSTPVTSEEPHTNIQ      1 - 70
DKLSKKNSSGDLTTNPDPQNAAEPTGTVPEQKEMDPGKEGPNSPQNKPPAAPVINEYADAQLHNLVKRMR     71 - 140
QRTALYKKKLVEGDLSSPEASPQTAKPTAVPPVKESDDKPTEHYYRLLWFKVKKMPLTEYLKRIKLPNSI    141 - 210
DSYTDRLYLLWLLLVTLAYNWNCCFIPLRLVFPYQTADNIHYWLIADIICDIIYLYDMLFIQPRLQFVRG    211 - 280
GDIIVDSNELRKHYRTSTKFQLDVASIIPFDICYLFFGFNPMFRANRMLKYTSFFEFNHHLESIMDKAYI    281 - 350
YRVIRTTGYLLFILHINACVYYWASNYEGIGTTRWVYDGEGNEYLRCYYWAVRTLITIGGLPEPQTLFEI    351 - 420
VFQLLNFFSGVFVFSSLIGQMRDVIGAATANQNYFRACMDDTIAYMNNYSIPKLVQKRVRTWYEYTWDSQ    421 - 490
RMLDESDLLKTLPTTVQLALAIDVNFSIISKVDLFKGCDTQMIYDMLLRLKSVLYLPGDFVCKKGEIGKE    491 - 560
MYIIKHGEVQVLGGPDGTKVLVTLKAGSVFGEISLLAAGGGNRRTANVVAHGFANLLTLDKKTLQEILVH    561 - 630
YPDSERILMKKARVLLKQKAKTAEATPPRKDLALLFPPKEETPKLFKTLLGGTGKASLARLLKLKREQAA    631 - 700
QKKENSEGGEEEGKENEDKQKENEDKQKENEDKGKENEDKDKGREPEEKPLDRPECTASPIAVEEEPHSV    701 - 770
RRTVLPRGTSRQSLIISMAPSAEGGEEVLTIEVKEKAKQ                                   771 - 809
//

Text Mined References (39)

PMID Year Title
25558176 2014 Five novel CNGB3 gene mutations in Polish patients with achromatopsia.
24676353 2014 Retinal morphology of patients with achromatopsia during early childhood: implications for gene therapy.
24664743 2014 Spectral domain optical coherence tomography findings in CNGB3-associated achromatopsia and therapeutic implications.
24164424 2013 Cyclic nucleotide-gated channel subunit glycosylation regulates matrix metalloproteinase-dependent changes in channel gating.
23940504 2013 Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.
23805033 2013 Disease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells.
23362848 2013 Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.
21878911 2011 Molecular mechanism for 3:1 subunit stoichiometry of rod cyclic nucleotide-gated ion channels.
21267001 2011 Clinical utility gene card for: achromatopsia.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
More...