PDF

NM_005906:p.Arg395Leu

MAK
NM_005906:c.1184G>T

Information

Variant Locale EXON10
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr6:10792040:C>A
Pathogenicity
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Damaging Probably Damaging Deleterious Disease Causing Conserved Conserved
0 1 0 0.999533 2.487 5.01

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

1/8600
European American Alternate Allele Count

125/4406
African American Alternate Allele Count
1000 Genomes
European

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

(No data)
Toscani in Italia

(No data)
British from England and Scotland

(No data)
Finnish from Finland

(No data)
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

(No data)
Iberian populations in Spain

(No data)
Kinh in Ho Chi Minh City, Vietnam
West African

4/162
Yoruba in Ibadan, Nigeria

3/48
Luhya in Webuye, Kenya
 
Americas

4/98
African Ancestry in Southwest US

4/110
African Caribbean in Barbados

(No data)
Mexican Ancestry in Los Angeles, CA

1/140
Puerto Rican in Puerto Rico

(No data)
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, 1000 Genomes, dbNSFP 2. Additional info from dbNSFP 2 -- Gene full name: male germ cell-associated kinase | Function description: Essential for the regulation of ciliary length and required for the long-term survival of photoreceptors (By similarity). Phosphorylates FZR1 in a cell cycle-dependent manner. Plays a role in the transcriptional coactivation of AR. Could play an important function in spermatogenesis. May play a role in chromosomal stability in prostate cancer cells. | Disease description: Defects in MAK are the cause of retinitis pigmentosa type 62 (RP62) [MIM:614181]. RP62 is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

http://vvd.eng.uiowa.edu/variant/1917
© 2011–2017 The Institute for Vision Research at The University of Iowa