Coenzyme Q8B

Alternative Names

COQ8B
AARF Domain-Containing Kinase 4
ADCK4

Length

26,679 bases

No. of Exons

No. of isoforms

Protein Name

Atypical Kinase COQ8B, Mitochondrial

Molecular Mass

60069 Da

Amino Acid Count

544

Genomic Location

chr19:40,691,529-40,716,885

Gene Map Locus

19q13.2

Description

This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain... [FromRefSeq]

Epidemiology in the Arab World

View Map

Arab

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_024876.4:c.1199dup	Arab	NC_000019.10:g.40695999dup	Pathogenic	Pathogenic	Nephrotic Syndrome, Type 9	NG_027800.1:g.25887dup; NM_024876.4:c.1199dup; NP_079152.3:p.His400GlnfsTer11	398122982	91850
NM_024876.4:c.293T>G	Arab	chr19:40710133		Pathogenic	Nephrotic Syndrome, Type 9	NG_027800.1:g.11753T>G; NM_024876.4:c.293T>G; NP_079152.3:p.Leu98Arg
NM_024876.4:c.532C>T	Arab	NC_000019.10:g.40705140G>A	Pathogenic, Uncertain Significance	Pathogenic	Nephrotic Syndrome, Type 9	NG_027800.1:g.16746C>T; NM_024876.4:c.532C>T; NP_079152.3:p.Arg178Trp	398122978	91845
NM_024876.4:c.645del	Arab	NC_000019.10:g.40703789del	Pathogenic	Pathogenic	Nephrotic Syndrome, Type 9	NG_027800.1:g.18099del; NM_024876.4:c.645del; NP_079152.3:p.Phe215LeufsTer14	764587648	375336
NM_024876.4:c.748G>A	Arab	NC_000019.10:g.40703592C>T	Likely Pathogenic, Pathogenic, Uncertain Significance	Pathogenic	Nephrotic Syndrome, Type 9	NG_027800.1:g.18294G>A; NM_024876.4:c.748G>A; NP_079152.3:p.Asp250Asn	769834604	988900
NM_024876.4:c.929C>T	Arab	chr19:40700416		Pathogenic	Nephrotic Syndrome, Type 9	NG_027800.1:g.21470C>T; NM_024876.4:c.929C>T; NP_079152.3:p.Pro310Leu

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External Links

https://ghr.nlm.nih.gov/gene/COQ8B https://www.genecards.org/cgi-bin/carddisp.pl?gene=COQ8B

Contributors

Sayeeda Hana: 06.04.2020

Edit History

Pratibha Nair: 08.06.2020
Sayeeda Hana: 06.04.2020

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