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NM_019098:p.Ile307Val

CNGB3
NM_019098:c.919A>G

Information

Variant Locale EXON8
PubMed ID (no data)
dbSNP ID rs13265557

Call

Variation chr8:87660100:T>C
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Neutral Polymorphism (Automatic) Non-conserved Non-conserved
0.34 0.001 0.136797 0.878855 -1.257 -6.88

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

515/8596
European American Alternate Allele Count

229/4406
African American Alternate Allele Count
1000 Genomes
European

13/132
Utah residents, Northern and Western European ancestry

7/122
Toscani in Italia

5/136
British from England and Scotland

12/162
Finnish from Finland

8/116
Iberian populations in Spain
 
East Asian

3/146
Han Chinese in Beijing, China

17/148
Japanese in Toyko, Japan

9/180
Han Chinese South

16/146
Chinese Dai in Xishuangbanna

8/116
Iberian populations in Spain

15/148
Kinh in Ho Chi Minh City, Vietnam
West African

9/162
Yoruba in Ibadan, Nigeria

3/48
Luhya in Webuye, Kenya
 
Americas

4/98
African Ancestry in Southwest US

3/110
African Caribbean in Barbados

4/116
Mexican Ancestry in Los Angeles, CA

5/140
Puerto Rican in Puerto Rico

5/96
Colombian in Medellin, Colombia

17/94
Peruvian in Lima, Peru
South Asian

16/154
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: rs17684456, rs56523294, rs13265557 | 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/2044
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