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NM_019098:p.Asn27Ser

CNGB3
NM_019098:c.80A>G

Information

Variant Locale EXON1
PubMed ID (no data)
dbSNP ID rs35807406

Call

Variation chr8:87755776:T>C
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Unknown Polymorphism Non-conserved Conserved
0.41 0.001 0.000361 0.257 0.225

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

213/8600
European American Alternate Allele Count

14/4406
African American Alternate Allele Count
1000 Genomes
European

(No data)
Utah residents, Northern and Western European ancestry

6/122
Toscani in Italia

2/136
British from England and Scotland

3/162
Finnish from Finland

3/116
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

3/116
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

1/98
African Ancestry in Southwest US

1/110
African Caribbean in Barbados

(No data)
Mexican Ancestry in Los Angeles, CA

2/140
Puerto Rican in Puerto Rico

1/96
Colombian in Medellin, Colombia

(No data)
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 -- Gene full name: cyclic nucleotide gated channel beta 3 | Function description: Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cGMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficiency of the channel when coexpressed with CNGA3 (By similarity). Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones. | Disease description: Defects in CNGB3 are the cause of achromatopsia type 3 (ACHM3) [MIM:262300]; also known as Pingelapese blindness. ACHM3 is a congenital complete achromatopsia and is distinct from total colorblindness mainly because of the consistent concurrence of severe myopia.

http://vvd.eng.uiowa.edu/variant/2047
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