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NM_006269:p.Cys2033Tyr

RP1
NM_006269:c.6098G>A

Information

Variant Locale EXON4
PubMed ID (no data)
dbSNP ID rs61739567

Call

Variation chr8:55542540:G>A
Pathogenicity
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Neutral Polymorphism Non-conserved Conserved
1 0.002 0.206202 0.052778 0.153 0.404

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

3577/8600
European American Alternate Allele Count

516/4404
African American Alternate Allele Count
1000 Genomes
European

63/132
Utah residents, Northern and Western European ancestry

55/122
Toscani in Italia

60/136
British from England and Scotland

60/162
Finnish from Finland

40/116
Iberian populations in Spain
 
East Asian

11/146
Han Chinese in Beijing, China

17/148
Japanese in Toyko, Japan

10/180
Han Chinese South

6/146
Chinese Dai in Xishuangbanna

40/116
Iberian populations in Spain

11/148
Kinh in Ho Chi Minh City, Vietnam
West African

7/162
Yoruba in Ibadan, Nigeria

3/48
Luhya in Webuye, Kenya
 
Americas

11/98
African Ancestry in Southwest US

8/110
African Caribbean in Barbados

22/116
Mexican Ancestry in Los Angeles, CA

53/140
Puerto Rican in Puerto Rico

28/96
Colombian in Medellin, Colombia

12/94
Peruvian in Lima, Peru
South Asian

48/154
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, 1000 Genomes, dbNSFP 2. Additional info from dbNSFP 2 -- Gene full name: retinitis pigmentosa 1 (autosomal dominant) | Function description: Microtubule-associated protein regulating the stability and length of the microtubule-based axoneme of photoreceptors. Required for the differentiation of photoreceptor cells, it plays a role in the organization of the outer segment of rod and cone photoreceptors ensuring the correct orientation and higher order stacking of outer segment disks along the photoreceptor axoneme (By similarity). | Disease description: Defects in RP1 are the cause of retinitis pigmentosa type 1 (RP1) [MIM:180100]. 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/2023
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