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NM_003322:p.Lys261Asn

TULP1
NM_003322:c.783G>C

Information

Variant Locale EXON8
PubMed ID (no data)
dbSNP ID rs2064318

Call

Variation chr6:35477025:C>G
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Neutral Polymorphism (Automatic) Non-conserved Conserved
1 0 0.017773 0.000992 0.571 3.73

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

7033/8600
European American Alternate Allele Count

3921/4406
African American Alternate Allele Count
1000 Genomes
European

101/132
Utah residents, Northern and Western European ancestry

90/122
Toscani in Italia

111/136
British from England and Scotland

131/162
Finnish from Finland

92/116
Iberian populations in Spain
 
East Asian

129/146
Han Chinese in Beijing, China

128/148
Japanese in Toyko, Japan

151/180
Han Chinese South

132/146
Chinese Dai in Xishuangbanna

92/116
Iberian populations in Spain

119/148
Kinh in Ho Chi Minh City, Vietnam
West African

144/162
Yoruba in Ibadan, Nigeria

44/48
Luhya in Webuye, Kenya
 
Americas

85/98
African Ancestry in Southwest US

97/110
African Caribbean in Barbados

111/116
Mexican Ancestry in Los Angeles, CA

123/140
Puerto Rican in Puerto Rico

76/96
Colombian in Medellin, Colombia

86/94
Peruvian in Lima, Peru
South Asian

115/154
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: rs57875686 | Gene full name: tubby like protein 1 | Function description: Required for normal development of photoreceptor synapses. Required for normal photoreceptor function and for long- term survival of photoreceptor cells. Interacts with cytoskeleton proteins and may play a role in protein transport in photoreceptor cells (By similarity). Binds lipids, especially phosphatidylinositol 3-phosphate, phosphatidylinositol 4- phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 4,5-bisphosphate, phosphatidylinositol 3,4,5-bisphosphate, phosphatidylserine and phosphatidic acid (in vitro). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages. | Disease description: Defects in TULP1 are the cause of Leber congenital amaurosis type 15 (LCA15) [MIM:613843]. LCA15 is 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/1933
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