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611 OPN1SW

611

OPN1SW

opsin 1, short wave sensitive

protein-coding

Homo sapiens

基因描述

Type Description
Definition opsin 1, short wave sensitive

研究结论

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

名称对应

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

全选

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