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NM_000350:p.Arg212His

ABCA4
NM_000350:c.635G>A

Information

Variant Locale EXON6
PubMed ID (no data)
dbSNP ID rs6657239

Call

Variation chr1:94564483:C>T
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Damaging Probably Damaging Deleterious Polymorphism (Automatic) Non-conserved Conserved
0.02 0.972 2.3e-05 0.569091 0.823 3.98

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

293/8600
European American Alternate Allele Count

311/4406
African American Alternate Allele Count
1000 Genomes
European

3/132
Utah residents, Northern and Western European ancestry

3/122
Toscani in Italia

10/136
British from England and Scotland

13/162
Finnish from Finland

4/116
Iberian populations in Spain
 
East Asian

8/146
Han Chinese in Beijing, China

8/148
Japanese in Toyko, Japan

8/180
Han Chinese South

9/146
Chinese Dai in Xishuangbanna

4/116
Iberian populations in Spain

13/148
Kinh in Ho Chi Minh City, Vietnam
West African

10/162
Yoruba in Ibadan, Nigeria

4/48
Luhya in Webuye, Kenya
 
Americas

4/98
African Ancestry in Southwest US

9/110
African Caribbean in Barbados

5/116
Mexican Ancestry in Los Angeles, CA

4/140
Puerto Rican in Puerto Rico

2/96
Colombian in Medellin, Colombia

7/94
Peruvian in Lima, Peru
South Asian

1/154
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, 1000 Genomes, dbNSFP 2. Additional info from dbNSFP 2 -- More dbSNP IDs: rs6657239 | Gene full name: ATP-binding cassette, sub-family A (ABC1), member 4 | Function description: In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 from the extracellular or intradiscal (rod) membrane surfaces to the cytoplasmic membrane surface are all-trans-retinaldehyde (ATR) and N-retinyl-phosphatidyl-ethanolamine (NR-PE). Once transported to the cytoplasmic surface, ATR is reduced to vitamin A by trans- retinol dehydrogenase (tRDH) and then transferred to the retinal pigment epithelium (RPE) where it is converted to 11-cis-retinal. May play a role in photoresponse, removing ATR/NR-PE from the extracellular photoreceptor surfaces during bleach recovery. | Disease description: Defects in ABCA4 are the cause of retinitis pigmentosa type 19 (RP19) [MIM:601718]. 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. RP19 is characterized by choroidal atrophy. Inheritance is autosomal recessive.

http://vvd.eng.uiowa.edu/variant/841
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