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NM_000350:p.His423Arg

ABCA4
NM_000350:c.1268A>G

Information

Variant Locale EXON10
PubMed ID (no data)
dbSNP ID rs3112831

Call

Variation chr1:94544234:T>C
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Neutral Polymorphism (Automatic) Conserved Conserved
0.39 0 0 1e-06 1.341 5.49

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

2661/8600
European American Alternate Allele Count

729/4406
African American Alternate Allele Count
1000 Genomes
European

34/132
Utah residents, Northern and Western European ancestry

29/122
Toscani in Italia

61/136
British from England and Scotland

45/162
Finnish from Finland

42/116
Iberian populations in Spain
 
East Asian

32/146
Han Chinese in Beijing, China

28/148
Japanese in Toyko, Japan

47/180
Han Chinese South

37/146
Chinese Dai in Xishuangbanna

42/116
Iberian populations in Spain

48/148
Kinh in Ho Chi Minh City, Vietnam
West African

25/162
Yoruba in Ibadan, Nigeria

7/48
Luhya in Webuye, Kenya
 
Americas

14/98
African Ancestry in Southwest US

11/110
African Caribbean in Barbados

29/116
Mexican Ancestry in Los Angeles, CA

46/140
Puerto Rican in Puerto Rico

26/96
Colombian in Medellin, Colombia

29/94
Peruvian in Lima, Peru
South Asian

31/154
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: rs17461660, rs60698303, rs3112831 | 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/798
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