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NM_001298:p.Thr153Met

CNGA3
NM_001298:c.458C>T

Information

Variant Locale EXON6
PubMed ID (no data)
dbSNP ID rs34314205

Call

Variation chr2:99006129:C>T
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Possibly Damaging Unknown Polymorphism Non-conserved Non-conserved
0.11 0.592 0.408475 0.000404 -0.705 -0.19

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

102/8600
European American Alternate Allele Count

10/4406
African American Alternate Allele Count
1000 Genomes
European

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

3/122
Toscani in Italia

2/136
British from England and Scotland

1/162
Finnish from Finland

7/116
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

7/116
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

(No data)
African Ancestry in Southwest US

(No data)
African Caribbean in Barbados

4/116
Mexican Ancestry in Los Angeles, CA

(No data)
Puerto Rican in Puerto Rico

1/96
Colombian in Medellin, Colombia

(No data)
Peruvian in Lima, Peru
South Asian

(No data)
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, dbNSFP 2. Additional info from dbNSFP 2 -- Gene full name: cyclic nucleotide gated channel alpha 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 cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of cone 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 efficacy of the channel when coexpressed with CNGB3 (By similarity). Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones. | Disease description: Note=Defects in CNGA3 may be a cause of Leber congenital amaurosis (LCA), a severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near- absent pupillary responses, photophobia, high hyperopia and keratoconus.

http://vvd.eng.uiowa.edu/variant/1620
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