| Type | Description |
|---|---|
| Definition | cyclic nucleotide gated channel alpha 3 |
| Date | Results | Publications |
|---|---|---|
| 2019-12-14 11:57:00 | Mutations in CNGA3 gene c.1306 C>T (p.R436W) and a novel variant c.1540G>A (p.D514N) were described in Pakistan families with Autosomal Recessive Achromatopsia. | 30804581 |
| 2019-10-19 11:15:00 | Diseases associated with mutations in CNGA3: Genotype-phenotype correlation. | 30711023 |
| 2019-06-29 13:09:00 | The remnant cone mosaics were irregular and variably disrupted, with significantly lower peak foveal cone density than unaffected individuals. Variability was also seen among subjects with identical mutations. | 30682209 |
| 2019-04-13 10:33:00 | Three novel homozygous variants were detected in CNGA3, two novel variants were found in PDE6C. All patients had nonrecordable full-field electroretinography 30-Hz flicker responses, reduced single-flash cone responses but preserved rod responses. | 30289319 |
| 2019-03-02 11:40:00 | Also any toxic effects of AAV8-CNGA3 on visual function might be manifest by a worsening of visual acuity after the initial period of post-operative recovery. Potential toxic effects on retinal function are likely to be manifest as a significant drop in visual acuity | 30187779 |
| Type | IDs |
|---|---|
| Synonymous | ACHM2, CCNC1, CCNCa, CCNCalpha, CNCG3, CNG3 |
| Gene |
UniProtKB-ID:
CNGA3_HUMAN
UniprotKB:
Q16281
UniParc:
UPI000004717B,
UPI000050ED6B,
UPI0000D61201
EMBL:
AK131300,
BC096299,
S76069,
BC096300,
BC096298,
AF065314,
AC092675
Ensembl:
ENSG00000144191
KO:
hsa:1261
|
| Nucleutide sequences |
EMBL-CDS:
AAH96299.1,
AAH96300.1,
AAD14208.1,
BAD18468.1,
AAY24181.1,
AAH96298.1,
AAC17440.1
Ensembl_TRS:
ENST00000436404,
ENST00000272602
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000272602,
ENSP00000410070
RefSeq:
NP_001289.1,
XP_011508856.1,
NP_001073347.1,
XP_006712306.1
|
| Others |
UniRef100:
UniRef100_Q16281
UniRef90:
UniRef90_Q16281
UniRef50:
UniRef50_Q16281
UniGene:
Hs.234785
CCDS:
CCDS2034.1,
CCDS42719.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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