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NM_205861:p.Val253Met

DHDDS
NM_205861:c.757G>A

Information

Variant Locale EXON8
PubMed ID (no data)
dbSNP ID rs3816539

Call

Variation chr1:26786627:G>A
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Unknown Unknown Unknown Unknown Non-conserved Non-conserved
-0.176 -1.42

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

1781/8600
European American Alternate Allele Count

1958/4406
African American Alternate Allele Count
1000 Genomes
European

24/132
Utah residents, Northern and Western European ancestry

32/122
Toscani in Italia

29/136
British from England and Scotland

50/162
Finnish from Finland

33/116
Iberian populations in Spain
 
East Asian

98/146
Han Chinese in Beijing, China

116/148
Japanese in Toyko, Japan

134/180
Han Chinese South

93/146
Chinese Dai in Xishuangbanna

33/116
Iberian populations in Spain

105/148
Kinh in Ho Chi Minh City, Vietnam
West African

82/162
Yoruba in Ibadan, Nigeria

15/48
Luhya in Webuye, Kenya
 
Americas

38/98
African Ancestry in Southwest US

59/110
African Caribbean in Barbados

39/116
Mexican Ancestry in Los Angeles, CA

35/140
Puerto Rican in Puerto Rico

30/96
Colombian in Medellin, Colombia

30/94
Peruvian in Lima, Peru
South Asian

61/154
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: rs17849789, rs52803466, rs58359749, rs3816539 | Gene full name: dehydrodolichyl diphosphate synthase | Function description: Catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier-lipid required for the biosynthesis of several classes of glycoprotein. | Disease description: Defects in DHDDS are the cause of retinitis pigmentosa type 59 (RP59) [MIM:613861]. RP59 is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. 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/349
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