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NM_019098:p.Glu755Gly

CNGB3
NM_019098:c.2264A>G

Information

Variant Locale EXON18
PubMed ID (no data)
dbSNP ID rs3735972

Call

Variation chr8:87588198:T>C
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Neutral Polymorphism (Automatic) Non-conserved Conserved
0.3 0.187 0.336259 0.000278 0.426 2.97

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

743/8600
European American Alternate Allele Count

310/4406
African American Alternate Allele Count
1000 Genomes
European

15/132
Utah residents, Northern and Western European ancestry

10/122
Toscani in Italia

9/136
British from England and Scotland

23/162
Finnish from Finland

5/116
Iberian populations in Spain
 
East Asian

7/146
Han Chinese in Beijing, China

19/148
Japanese in Toyko, Japan

9/180
Han Chinese South

19/146
Chinese Dai in Xishuangbanna

5/116
Iberian populations in Spain

17/148
Kinh in Ho Chi Minh City, Vietnam
West African

13/162
Yoruba in Ibadan, Nigeria

1/48
Luhya in Webuye, Kenya
 
Americas

5/98
African Ancestry in Southwest US

8/110
African Caribbean in Barbados

6/116
Mexican Ancestry in Los Angeles, CA

13/140
Puerto Rican in Puerto Rico

7/96
Colombian in Medellin, Colombia

14/94
Peruvian in Lima, Peru
South Asian

6/154
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: rs52818605, rs56540041, rs57600088, rs3735972 | 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/2024
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