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NM_016346:p.Met163Thr

NR2E3
NM_016346:c.488T>C

Information

Variant Locale EXON4
PubMed ID (no data)
dbSNP ID rs1805021

Call

Variation chr15:72104433:T>C
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Neutral Polymorphism Non-conserved Non-conserved
0.39 0 0.000139 0.000481 -0.214 -1.65

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

180/8034
European American Alternate Allele Count

23/3818
African American Alternate Allele Count
1000 Genomes
European

1/110
Utah residents, Northern and Western European ancestry

4/104
Toscani in Italia

3/96
British from England and Scotland

(No data)
Finnish from Finland

(No data)
Iberian populations in Spain
 
East Asian

8/78
Han Chinese in Beijing, China

38/136
Japanese in Toyko, Japan

10/74
Han Chinese South

7/78
Chinese Dai in Xishuangbanna

(No data)
Iberian populations in Spain

16/114
Kinh in Ho Chi Minh City, Vietnam
West African

(No data)
Yoruba in Ibadan, Nigeria

(No data)
Luhya in Webuye, Kenya
 
Americas

(No data)
African Ancestry in Southwest US

2/104
African Caribbean in Barbados

3/114
Mexican Ancestry in Los Angeles, CA

1/110
Puerto Rican in Puerto Rico

3/80
Colombian in Medellin, Colombia

2/76
Peruvian in Lima, Peru
South Asian

4/142
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, 1000 Genomes, dbNSFP 2. Additional info from dbNSFP 2 -- More dbSNP IDs: rs3752817 | Gene full name: nuclear receptor subfamily 2, group E, member 3 | Function description: Orphan nuclear receptor of retinal photoreceptor cells. Transcriptional factor that is an activator of rod development and repressor of cone development. Binds the promoter region of a number of rod- and cone-specific genes, including rhodopsin, M- and S-opsin and rod-specific phosphodiesterase beta subunit. Enhances rhodopsin expression. Represses M- and S-cone opsin expression. | Disease description: Defects in NR2E3 are the cause of retinitis pigmentosa type 37 (RP37) [MIM:611131]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP37 inheritance is autosomal dominant.

http://vvd.eng.uiowa.edu/variant/1374
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