Type | Description |
---|---|
Definition | opsin 1, short wave sensitive |
Date | Results | Publications |
---|---|---|
2021-03-06 13:32:00 | Tritan color vision deficiency may be associated with an OPN1SW splicing defect and haploinsufficiency. | 32400513 |
2017-07-01 10:36:00 | LVAVA haplotype of the OPN1LW gene and MVAVA haplotype of the OPN1MW gene cause apparently nonsyndromic high myopia in young patients but lead to progressive cone-rod dystrophy with deuteranopia and protanopia in middle-aged patients corresponding to a previously unknown disease course. | 28358949 |
2017-05-27 10:19:00 | Data suggest that insights into dimerization interface of red cone opsin should aid investigations of the structure and function of GPCR cell signaling. | 28045251 |
2016-02-27 11:38:00 | A novel homozygous PDE6C mutation was identified as the cause of ACHM. In addition, we identified an OPN1SW mutation in the sibling with complete achromatopsia. | 25605338 |
2013-05-11 11:37:00 | Individuals with the T190I S-opsin mutation behaved as mild tritans at 12.3-92.3Td, but as tritanopes at 1.2-9.2Td, for both light-adapted and dark-adapted conditions. The results are consistent with the mutant opsin causing abnormal S-cone function. | 23022137 |
Type | IDs |
---|---|
Synonymous | BCP, BOP, CBT |
Gene |
UniProtKB-ID:
OPSB_HUMAN,
Q0PJU0_HUMAN
UniprotKB:
P03999,
Q0PJU0
UniParc:
UPI000000014B
EMBL:
CH471070,
U53874,
M13297,
CH236950,
M26172,
M13295,
DQ822478,
M13296,
M13298,
M13299,
L32835
Ensembl:
ENSG00000128617
KO:
hsa:611
|
Nucleutide sequences |
EMBL-CDS:
AAC51334.1,
AAB05207.1,
AAL31362.1,
AAA35608.1,
EAL24112.1,
EAW83680.1,
ABH01259.1
Gene_ORFName:
tcag7.365,
hCG_41660
Ensembl_TRS:
ENST00000249389
|
Protein sequencees |
Ensembl_PRO:
ENSP00000249389
RefSeq:
NP_001372054.1
|
Others |
UniRef100:
UniRef100_P03999
UniRef90:
UniRef90_P03999
UniRef50:
UniRef50_P03999
UniGene:
Hs.656404
|
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