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NM_003322:p.Thr67Arg

TULP1
NM_003322:c.200C>G

Information

Variant Locale EXON4
PubMed ID (no data)
dbSNP ID rs7764472

Call

Variation chr6:35479574:G>C
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Neutral Polymorphism Non-conserved Conserved
1 0 5e-05 0.000615 -0.239 0.724

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

7196/8324
European American Alternate Allele Count

4097/4226
African American Alternate Allele Count
1000 Genomes
European

105/130
Utah residents, Northern and Western European ancestry

86/114
Toscani in Italia

118/130
British from England and Scotland

127/152
Finnish from Finland

93/114
Iberian populations in Spain
 
East Asian

128/144
Han Chinese in Beijing, China

124/142
Japanese in Toyko, Japan

150/176
Han Chinese South

131/146
Chinese Dai in Xishuangbanna

93/114
Iberian populations in Spain

120/148
Kinh in Ho Chi Minh City, Vietnam
West African

160/160
Yoruba in Ibadan, Nigeria

42/42
Luhya in Webuye, Kenya
 
Americas

77/80
African Ancestry in Southwest US

109/110
African Caribbean in Barbados

96/98
Mexican Ancestry in Los Angeles, CA

122/136
Puerto Rican in Puerto Rico

73/92
Colombian in Medellin, Colombia

85/90
Peruvian in Lima, Peru
South Asian

117/150
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: rs61233484 | 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/1936
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