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NM_006915:p.Arg282Trp

RP2
NM_006915:c.844C>T

Information

Variant Locale EXON3
PubMed ID (no data)
dbSNP ID rs1805147

Call

Variation chrX:46719498:C>T
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Possibly Damaging Neutral Polymorphism Non-conserved Conserved
0.16 0.925 0.008402 0.026399 0.457 3.35

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

221/6728
European American Alternate Allele Count

14/3835
African American Alternate Allele Count
1000 Genomes
European

(No data)
Utah residents, Northern and Western European ancestry

2/122
Toscani in Italia

5/136
British from England and Scotland

2/162
Finnish from Finland

2/116
Iberian populations in Spain
 
East Asian

(No data)
Han Chinese in Beijing, China

(No data)
Japanese in Toyko, Japan

(No data)
Han Chinese South

(No data)
Chinese Dai in Xishuangbanna

2/116
Iberian populations in Spain

(No data)
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

(No data)
African Caribbean in Barbados

1/116
Mexican Ancestry in Los Angeles, CA

(No data)
Puerto Rican in Puerto Rico

4/96
Colombian in Medellin, Colombia

(No data)
Peruvian in Lima, Peru
South Asian

(No data)
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, dbNSFP 2. Additional info from dbNSFP 2 -- More dbSNP IDs: rs17261579, rs1805147 | Gene full name: retinitis pigmentosa 2 (X-linked recessive) | Function description: Acts as a GTPase-activating protein (GAP) involved in trafficking between the Golgi and the ciliary membrane. Involved in localization of proteins, such as NPHP3, to the cilium membrane by inducing hydrolysis of GTP ARL3, leading to the release of UNC119 (or UNC119B). Acts as a GTPase-activating protein (GAP) for tubulin in concert with tubulin-specific chaperone C, but does not enhance tubulin heterodimerization. Acts as guanine nucleotide dissociation inhibitor towards ADP-ribosylation factor-like proteins. | Disease description: Defects in RP2 are the cause of retinitis pigmentosa type 2 (RP2) [MIM:312600]; also known as X-linked retinitis pigmentosa 2 (XLRP-2). 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.

http://vvd.eng.uiowa.edu/variant/2126
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