| Type | Description |
|---|---|
| Definition | cyclic nucleotide gated channel beta 3 |
| Date | Results | Publications |
|---|---|---|
| 2020-07-04 11:58:00 | Identification of disease-causing mutations in CNGB3 in achromatopsia | 32397729 |
| 2018-08-04 10:29:00 | The results of this study do not support the hypothesis that the focal chorioretinitis seen with high doses of AAV5-PR2.1-hCNGB3 in the initial studies was due to an immune response to human CNGB3. | 29020838 |
| 2018-06-23 10:37:00 | a comprehensive view on the spectrum and prevalence of CNGB3 mutations in achromatopsia patients. | 28795510 |
| 2018-03-31 10:53:00 | Although the defect that causes achromatopsia is primarily in the cone photoreceptors, our results reveal an accompanying disruption of rod function that is more severe than has previously been reported. The differential effects on the b-wave relative to the a-wave points to an inner-retinal locus for the disruption of rod function in these patients. | 28929832 |
| 2018-02-24 11:17:00 | Foveal cone structure showed little or no change in this group of subjects with CNGB3-associated achromatopsia. Over the time scales investigated (6-26 months), achromatopsia seems to be a structurally stable condition, although longer-term follow-up is needed. | 28145975 |
| Type | IDs |
|---|---|
| Synonymous | ACHM1 |
| Gene |
UniProtKB-ID:
CNGB3_HUMAN
UniprotKB:
Q9NQW8
UniParc:
UPI000014076F,
UPI0001AE6EC4
EMBL:
AC013751,
AF228520,
AC090572,
AF272900
Ensembl:
ENSG00000170289
KO:
hsa:54714
|
| Nucleutide sequences |
EMBL-CDS:
AAF86274.1,
AAF80179.1
Ensembl_TRS:
ENST00000320005
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000316605
RefSeq:
NP_061971.3,
XP_011515440.1
|
| Others |
UniRef100:
UniRef100_Q9NQW8
UniRef90:
UniRef90_Q9NQW8
UniRef50:
UniRef50_Q9NQW8
UniGene:
Hs.154433
CCDS:
CCDS6244.1
|
| {{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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