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NM_022726:p.Met299Val

ELOVL4
NM_022726:c.895A>G

Information

Variant Locale EXON6
PubMed ID (no data)
dbSNP ID rs3812153

Call

Variation chr6:80626375:T>C
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Neutral Polymorphism (Automatic) Conserved Conserved
0.35 0 0.03455 0 1.388 5.61

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

939/8600
European American Alternate Allele Count

1008/4406
African American Alternate Allele Count
1000 Genomes
European

16/132
Utah residents, Northern and Western European ancestry

13/122
Toscani in Italia

13/136
British from England and Scotland

19/162
Finnish from Finland

14/116
Iberian populations in Spain
 
East Asian

29/146
Han Chinese in Beijing, China

37/148
Japanese in Toyko, Japan

35/180
Han Chinese South

41/146
Chinese Dai in Xishuangbanna

14/116
Iberian populations in Spain

36/148
Kinh in Ho Chi Minh City, Vietnam
West African

45/162
Yoruba in Ibadan, Nigeria

15/48
Luhya in Webuye, Kenya
 
Americas

27/98
African Ancestry in Southwest US

24/110
African Caribbean in Barbados

25/116
Mexican Ancestry in Los Angeles, CA

27/140
Puerto Rican in Puerto Rico

20/96
Colombian in Medellin, Colombia

22/94
Peruvian in Lima, Peru
South Asian

57/154
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: rs52819344, rs57220964, rs3812153 | Gene full name: ELOVL fatty acid elongase 4 | Function description: Condensing enzyme that elongates saturated and monounsaturated very long chain fatty acids (VLCFAs). Elongates C24:0 and C26:0 acyl-CoAs. Seems to represent a photoreceptor- specific component of the fatty acid elongation system residing on the endoplasmic reticulum. May be implicated in docosahexaenoic acid (DHA) biosynthesis, which requires dietary consumption of the essential alpha-linolenic acid and a subsequent series of three elongation steps. | Disease description: Defects in ELOVL4 are the cause of Stargardt disease type 3 (STGD3) [MIM:600110]. STGD is one of the most frequent causes of macular degeneration in childhood. It is characterized by macular dystrophy with juvenile-onset, rapidly progressive course, alterations of the peripheral retina, and subretinal deposition of lipofuscin-like material. STGD3 inheritance is autosomal dominant.

http://vvd.eng.uiowa.edu/variant/2018
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