Vacuolar Protein Sorting 13, Yeast, Homolog of, B

Alternative Names

VPS13B
COH1 Gene
COH1
KIAA0532

Length

864,516 bases

No. of Exons

No. of isoforms

Protein Name

Vacuolar protein sorting-associated protein 13B

Molecular Mass

448664 Da

Amino Acid Count

4022

Genomic Location

chr8:99,013,071-99,877,586

Gene Map Locus

8q22-q23

Description

COH1 is a large gene whose function is not clearly understood. The protein coded by this gene has a complex domain structure, including 10 predicted transmembrane domains, a potential vacuolar targeting motif, endoplasmic reticulum retention signal in the C terminus, and 2 peroxisomal matrix protein targeting signal-2 (PTS2) consensus sequences.

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_017890.4:c.11785C>G	Lebanon	chr8:99871662	Uncertain Significance	Likely Pathogenic	Cohen Syndrome	NG_007098.2:g.863397C>G; NM_017890.4:c.11785C>G; NP_060360.3:p.Gln3929Glu	545957190	198309
NM_017890.4:c.1219C>T	Saudi Arabia	NC_000008.11:g.99134644C>T	Pathogenic	Pathogenic	Cohen Syndrome	NG_007098.2:g.126379C>T; NM_017890.4:c.1219C>T ; NP_060360.3:p.Gln407Ter	386834070	56645
NM_017890.4:c.1225G>T	Palestine	NC_000008.11:g.99134650G>T	Likely Pathogenic, Pathogenic	Likely Pathogenic	Cohen Syndrome	NG_007098.2:g.126385G>T; NM_017890.4:c.1225G>T; NP_060360.3:p.Glu409Ter	386834071	56646
NM_017890.4:c.6530_6732del	Syria	NC_000008.11:g.99717171_99717373del		Uncertain Significance	Cohen Syndrome	NG_007098.2:g.708906_709108del; NM_017890.4:c.6530_6732del ; NP_060360.3:p.?
NM_017890.4:c.7934G>A	Oman	NC_000008.11:g.99784394G>A	Pathogenic	Pathogenic	Cohen Syndrome	NG_007098.2:g.776129G>A; NM_017890.4:c.7934G>A; NP_060360.3:p.Gly2645Asp	120074153	2824
NM_017890.4:c.9406-1G>T	Lebanon	NC_000008.11:g.99832368G>T	Pathogenic	Pathogenic	Retinopathy, Pigmentary, and Mental Retardation; Cohen Syndrome	NG_007098.2:g.824103G>T; NM_017890.4:c.9406-1G>T ; NP_060360.3:p.?	386834119	189197
NM_152564.4:c.11251del	Lebanon	NC_000008.11:g.99868325del	Pathogenic	Pathogenic	Cohen Syndrome	NG_007098.2:g.860060del; NM_152564.4:c.11251del; NP_689777.3:p.Asn3751ThrfsTer102		1073212
NM_152564.4:c.7365del	United Arab Emirates	NC_000008.11:g.99776892del	Likely Pathogenic	Pathogenic	Cohen Syndrome	NG_007098.2:g.768627del; NM_152564.4:c.7365del; NP_689777.3:p.Cys2455TrpfsTer20	1811766430	974865

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External Links

http://my.webmd.com/hw/health_guide_atoz/nord751.asp http://www.cafamily.org.uk/Direct/c48.html http://www.orpha.net/data/patho/GB/uk-cohen.pdf

Contributors

Pratibha Nair: 06.10.2021
Pratibha Nair: 17.11.2020
Pratibha Nair: 02.06.2013
Pratibha Nair: 06.01.2008
Eiman Ibrahim: 18.08.2007
Pratibha Nair: 29.07.2007
Eiman Ibrahim: 18.07.2007
Ghazi O. Tadmouri: 02.01.2005

Edit History

Pratibha Nair: 06.07.2022
Pratibha Nair: 06.10.2021
Pratibha Nair: 25.04.2021
Pratibha Nair: 17.11.2020
Pratibha Nair: 24.12.2018
Pratibha Nair: 06.12.2018
Pratibha Nair: 15.07.2013
Pratibha Nair: 24.01.2008
Tasneem Obeid: 27.12.2007
Sarah Al-Haj Ali: 05.01.2005
Sarah Al-Haj Ali: 20.11.2004
Sarah Al-Haj Ali: 10.11.2004
Ghazi O. Tadmouri: 23.08.2004

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