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NM_000350:p.Pro1948Leu

ABCA4
NM_000350:c.5843C>T

Information

Variant Locale EXON42
PubMed ID (no data)
dbSNP ID rs56142141

Call

Variation chr1:94473846:G>A
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Neutral Polymorphism Conserved Conserved
0.05 0.01 0.565821 0.002738 2.941 5.35

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

322/8600
European American Alternate Allele Count

43/4406
African American Alternate Allele Count
1000 Genomes
European

3/132
Utah residents, Northern and Western European ancestry

1/122
Toscani in Italia

8/136
British from England and Scotland

11/162
Finnish from Finland

14/116
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

14/116
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

2/98
African Ancestry in Southwest US

1/110
African Caribbean in Barbados

3/116
Mexican Ancestry in Los Angeles, CA

7/140
Puerto Rican in Puerto Rico

4/96
Colombian in Medellin, Colombia

1/94
Peruvian in Lima, Peru
South Asian

(No data)
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: rs61748515 | 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/514
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