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NM_001034853:p.Ala781Thr

RPGR
NM_001034853:c.2341G>A

Information

Variant Locale EXON15
PubMed ID (no data)
dbSNP ID rs5917557

Call

Variation chrX:38145911:C>T
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Possibly Damaging Unknown Polymorphism (Automatic) Non-conserved Non-conserved
0.49 0.753 0.366415 0.001409 -0.591 -2.17

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

973/5754
European American Alternate Allele Count

280/3324
African American Alternate Allele Count
1000 Genomes
European

21/126
Utah residents, Northern and Western European ancestry

27/120
Toscani in Italia

22/128
British from England and Scotland

10/142
Finnish from Finland

36/102
Iberian populations in Spain
 
East Asian

(No data)
Han Chinese in Beijing, China

(No data)
Japanese in Toyko, Japan

1/168
Han Chinese South

(No data)
Chinese Dai in Xishuangbanna

36/102
Iberian populations in Spain

(No data)
Kinh in Ho Chi Minh City, Vietnam
West African

9/148
Yoruba in Ibadan, Nigeria

1/40
Luhya in Webuye, Kenya
 
Americas

9/94
African Ancestry in Southwest US

4/72
African Caribbean in Barbados

7/112
Mexican Ancestry in Los Angeles, CA

18/114
Puerto Rican in Puerto Rico

10/76
Colombian in Medellin, Colombia

2/64
Peruvian in Lima, Peru
South Asian

1/100
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: rs5917557 | Gene full name: retinitis pigmentosa GTPase regulator | Function description: Could be a guanine-nucleotide releasing factor. Play a role in ciliogenesis. Probably regulates cilia formation by regulating actin stress filaments and cell contractility. | Disease description: Defects in RPGR are a cause of macular degeneration X- linked atrophic (MDXLA) [MIM:300834]. MDXLA is an ocular disorder characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment. Some patients manifest extensive macular degeneration plus peripheral loss of retinal pigment epithelium and choriocapillaries. Full- field electroretinograms (ERGs) show normal cone and rod responses in some affected males despite advanced macular degeneration.

http://vvd.eng.uiowa.edu/variant/2090
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