SAG

S-antigen visual arrestin

Summary

Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. S-arrestin, also known as S-antigen, is a major soluble photoreceptor protein that is involved in desensitization of the photoactivated transduction cascade. It is expressed in the retina and the pineal gland and inhibits coupling of rhodopsin to transducin in vitro. Additionally, S-arrestin is highly antigenic, and is capable of inducing experimental autoimmune uveoretinitis. Mutations in this gene have been associated with Oguchi disease, a rare autosomal recessive form of night blindness. [provided by RefSeq, Jul 2008]

Known Variants378 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs752812406	2:234,216,366	G/T	—	uncertain significance
rs886055799	2:234,216,419	A/G	—	uncertain significance
rs140569105	2:234,216,474	C/G	—	conflicting classifications of pathogenicity
rs189763324	2:234,216,628	G/A	—	conflicting classifications of pathogenicity
rs1462642188	2:234,217,798	A/G	—	uncertain significance
rs754551985	2:234,217,825	G/A	—	uncertain significance
rs769237565	2:234,217,831	A/G	—	uncertain significance
rs779256859	2:234,217,840	C/T	—	uncertain significance
rs368756706	2:234,217,841	A/G	—	likely benign
rs1700011294	2:234,217,847	C/T	—	conflicting classifications of pathogenicity
rs996188359	2:234,217,848	G/A	—	uncertain significance
rs772312202	2:234,217,852	A/G	—	uncertain significance
rs2469737159	2:234,217,854	A/C	—	uncertain significance
rs772914589	2:234,217,859	C/T	—	uncertain significance
rs746667957	2:234,217,865	C/T	—	likely benign
rs200078242	2:234,217,866	G/A	—	conflicting classifications of pathogenicity
rs183383266	2:234,217,870	C/T	—	conflicting classifications of pathogenicity
rs765255437	2:234,217,871	G/A	—	conflicting classifications of pathogenicity
rs2125317872	2:234,217,887	A/G	—	uncertain significance
rs367731825	2:234,217,899	C/T	—	uncertain significance
rs371502229	2:234,217,900	G/A	—	uncertain significance
rs751346191	2:234,217,901	G/A	—	likely benign
rs1700012604	2:234,217,902	G/C	—	uncertain significance
rs374930316	2:234,217,909	C/A	—	pathogenic
rs1484802068	2:234,217,910	G/A	—	conflicting classifications of pathogenicity
rs753990994	2:234,217,917	G/T	—	conflicting classifications of pathogenicity
rs779534477	2:234,217,922	A/C	—	likely benign
rs748596322	2:234,217,926	G/A	—	likely benign
rs1700013524	2:234,217,929	A/G	—	likely benign
rs533251550	2:234,223,994	A/C	—	uncertain significance
rs10172939	2:234,224,472	C/T	—	benign
rs112149360	2:234,224,637	T/C	—	benign
rs181158151	2:234,224,643	G/C	—	benign
rs55895356	2:234,224,681	C/T	—	benign
rs2469753762	2:234,224,713	T/G	—	likely benign
rs2125324202	2:234,224,719	A/C	—	likely pathogenic
rs2469753792	2:234,224,720	G/A	—	likely pathogenic
rs758926241	2:234,224,733	C/G	—	uncertain significance
rs1309697567	2:234,224,737	G/A	—	uncertain significance
rs79063407	2:234,224,738	G/A	—	benign
rs368817016	2:234,224,744	A/C	—	uncertain significance
rs373412387	2:234,224,745	G/T	—	uncertain significance
rs794727485	2:234,224,747	C/G	—	uncertain significance
rs188789430	2:234,224,752	T/C	—	uncertain significance
rs1350432841	2:234,224,756	C/A	—	uncertain significance
rs572519144	2:234,224,759	T/A	—	uncertain significance
rs1700212571	2:234,224,780	G/A	—	uncertain significance
rs1233480483	2:234,224,783	T/G	—	pathogenic
rs779457271	2:234,224,785	A/G	—	benign
rs377550915	2:234,224,788	T/C	—	likely benign
rs768754201	2:234,224,789	G/C	—	likely benign
rs7594781	2:234,227,113	G/C	—	benign
rs4663490	2:234,227,118	G/A	—	benign
rs759690289	2:234,227,378	T/C	—	likely benign
rs1273817821	2:234,227,381	C/T	—	likely benign
rs534970020	2:234,227,404	C/T	—	likely benign
rs151281271	2:234,227,405	G/A	—	uncertain significance
rs1483109055	2:234,227,410	G/T	—	uncertain significance
rs200296556	2:234,227,414	G/C	—	uncertain significance
rs1700287626	2:234,227,421	A/C	—	uncertain significance
rs755757588	2:234,227,423	C/A	—	uncertain significance
rs1418385655	2:234,227,429	A/C	—	uncertain significance
rs2125326219	2:234,227,431	G/A	—	likely benign
rs1237999640	2:234,227,432	G/C	—	uncertain significance
rs368776561	2:234,227,440	A/G	—	uncertain significance
rs779062750	2:234,227,442	G/A	—	likely pathogenic
rs370144064	2:234,227,447	A/G	—	uncertain significance
rs2469760451	2:234,227,452	G/T	—	likely benign
rs1700289055	2:234,227,454	C/G	—	likely benign
rs1700289289	2:234,227,457	T/C	—	likely benign
rs2304777	2:234,227,523	G/A	—	benign
rs2304776	2:234,227,693	C/T	—	benign
rs2304775	2:234,227,699	T/C	—	benign
rs61311555	2:234,227,711	C/G	—	benign
rs59967591	2:234,227,713	C/T	—	benign
rs201375215	2:234,229,263	A/T	—	likely benign
rs201086679	2:234,229,274	A/G	—	likely pathogenic
rs2469765655	2:234,229,275	G/A	—	likely pathogenic
rs2125328105	2:234,229,279	A/G	—	uncertain significance
rs750268255	2:234,229,282	T/C	—	uncertain significance
rs1485741046	2:234,229,291	C/A	—	uncertain significance
rs72976383	2:234,229,295	T/C	—	uncertain significance
rs748410984	2:234,229,296	G/A	—	uncertain significance
rs1187347399	2:234,229,297	C/A	—	uncertain significance
rs777934036	2:234,229,302	C/T	—	uncertain significance
rs747018082	2:234,229,303	G/A	—	uncertain significance
rs1700350763	2:234,229,306	A/G	—	uncertain significance
rs1425754052	2:234,229,316	G/C	—	uncertain significance
rs7565275	2:234,229,320	A/G	—	benign
rs79922016	2:234,229,325	C/T	—	conflicting classifications of pathogenicity
rs760031511	2:234,229,326	G/A	—	uncertain significance
rs762679217	2:234,229,331	C/T	—	likely benign
rs1356753192	2:234,229,332	G/A	—	uncertain significance
rs2469765941	2:234,229,333	G/T	—	uncertain significance
rs115857633	2:234,229,344	C/T	—	conflicting classifications of pathogenicity
rs997097770	2:234,229,345	G/A	—	uncertain significance
rs767502405	2:234,229,348	G/C	—	uncertain significance
rs1574934315	2:234,229,351	A/G	—	uncertain significance
rs1255564073	2:234,229,352	C/A	—	uncertain significance
rs1045104656	2:234,229,356	T/A	—	uncertain significance

Showing 100 of 378 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.