OPN1SW cDNA ORF clone, Homo sapiens(human)

Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X.
Orosz O, Rajta I, Vajas A, Tak?cs L, Csutak A, Fodor M, Kolozsv?ri B, Resch M, S?nyi K, Lesch B, Szab? V, Berta A, Balogh I, Losonczy G
Investigative ophthalmology & visual science58(3)1834-1842(2017 03)

A G Protein-Coupled Receptor Dimerization Interface in Human Cone Opsins.
Jastrzebska B, Comar WD, Kaliszewski MJ, Skinner KC, Torcasio MH, Esway AS, Jin H, Palczewski K, Smith AW
Biochemistry56(1)61-72(2017 Jan)

Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).
Katagiri S, Hayashi T, Yoshitake K, Sergeev Y, Akahori M, Furuno M, Nishino J, Ikeo K, Tsunoda K, Tsuneoka H, Iwata T
Ophthalmic genetics36(2)137-44(2015 Jun)

Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
Fatemifar G, Hoggart CJ, Paternoster L, Kemp JP, Prokopenko I, Horikoshi M, Wright VJ, Tobias JH, Richmond S, Zhurov AI, Toma AM, Pouta A, Taanila A, Sipila K, L?hdesm?ki R, Pillas D, Geller F, Feenstra B, Melbye M, Nohr EA, Ring SM, St Pourcain B, Timpson NJ, Davey Smith G, Jarvelin MR, Evans DM
Human molecular genetics22(18)3807-17(2013 Sep)

Localisation of the human blue cone pigment gene to chromosome band 7q31.3-32.
Fitzgibbon J, Appukuttan B, Gayther S, Wells D, Delhanty J, Hunt DM
Human genetics93(1)79-80(1994 Jan)

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.
Title: Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X.

Data suggest that insights into dimerization interface of red cone opsin should aid investigations of the structure and function of GPCR cell signaling.
Title: A G Protein-Coupled Receptor Dimerization Interface in Human Cone Opsins.

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.
Title: Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).

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.
Title: Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities.

Observational study of genetic testing. (HuGE Navigator)
Title: Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.