Potassium Channel, Voltage-Gated, KQT-Like Subfamily, Member 1

Alternative Names

KCNQ1
Potassium Channel, Voltage-Gated, Shaker-Related Subfamily, Member 9
KVLQT1
KCNA9
KCNA8

Length

404427 bases

No. of Exons

No. of isoforms

Protein Name

Potassium voltage-gated channel subfamily KQT member 1

Molecular Mass

74699Da

Amino Acid Count

676

Genomic Location

chr11:2444684-2849110

Gene Map Locus

11p15.5-p15.4

Description

KCNQ1 gene encodes a protein named potassium voltage-gated channel subfamily KQT member 1 that plays a critical role in regulating repolarisation phase of the cardiac action potential as well as in controlling the water and salt homeostasis in several epithelial tissues. Mutations in KCNQ1 gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. These mutations affect the voltage-gated K+ channel resulting in reduction of potassium ion transport, thereby, altering the transmission of electrical signals in the heart and consequently increasing the risk of syncope or sudden death to occur.

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_000218.2:c.1251+1G>T	Saudi Arabia	NC_000011.10:g.2587693G>T		Uncertain Significance	Jervell and Lange-Nielsen Syndrome 1	NG_008935.1:g.147703G>T; NM_000218.2:c.1251+1G>T
NM_000218.2:c.1700T>C	Saudi Arabia	NC_000011.10:g.2777000T>C	Likely Pathogenic, Pathogenic	Pathogenic	Jervell and Lange-Nielsen Syndrome 1	NG_008935.1:g.337010T>C; NM_000218.2:c.1700T>C; NP_000209.2:p.Ile567Thr	199472805	53007
NM_000218.2:c.1795-11803A>C	Lebanon	NC_000011.10:g.2835964A>C		Association	Type 2 Diabetes Mellitus	NG_008935.1:g.395974A>C; NM_000218.2:c.1795-11803A>C; NP_000209.2:p.?	2237895
NM_000218.2:c.1795-29246C>T	Lebanon	NC_000011.10:g.2818521C>T		Association, Benign	Type 2 Diabetes Mellitus	NG_008935.1:g.378531C>T; NM_000218.2:c.1795-29246C>T; NP_000209.2:p.?	2237892
NM_000218.2:c.387-5T>A	Saudi Arabia	chr11:2527923	Pathogenic	Pathogenic	Long QT Syndrome 1	NG_008935.1:g.87933T>A; NM_000218.2:c.387-5T>A		200872
NM_000218.2:c.604G>A	Saudi Arabia	NC_000011.10:g.2570754G>A	Pathogenic	Uncertain Significance	Jervell and Lange-Nielsen Syndrome 1	NG_008935.1:g.130764G>A; NM_000218.2:c.604G>A; NP_000209.2:p.Asp202Asn	199472702	53077
NM_000218.2:c.773A>C	Saudi Arabia	chr11:2572102	Pathogenic	Pathogenic	Long QT Syndrome 1	NG_008935.1:g.132112A>C; NM_000218.2:c.773A>C; NP_000209.2:p.His258Pro	199472718	67105
NM_000218.2:c.817C>T	Saudi Arabia	NC_000011.10:g.2572882C>T	Pathogenic	Pathogenic, Uncertain Significance	Jervell and Lange-Nielsen Syndrome 1	NG_008935.1:g.132892C>T; NM_000218.2:c.817C>T ; NP_000209.2:p.Leu273Phe	120074180	3119
NM_000218.2:c.820_830del	Saudi Arabia	NC_000011.10:g.2572885_2572895		Uncertain Significance	Jervell and Lange-Nielsen Syndrome 1	NG_008935.1:g.132895_132905del; NM_000218.2:c.820_830del; NP_000209.2:p.Ile274Valfs*7
NM_000218.3:c.1484_1485CT[1]	Saudi Arabia	NC_000011.10:g.2662051_2662052CT[1]	Pathogenic, Uncertain Significance	Pathogenic, Uncertain Significance	Jervell and Lange-Nielsen Syndrome 1	NG_008935.1:g.222061_222062CT[1]; NM_000218.3:c.1484_1485CT[1]; NP_861463.1:p.Leu369fs	397508090	52983
NM_000218.3:c.1591C>T	Lebanon	NC_000011.10:g.2775960C>T	Pathogenic	Likely Pathogenic	Long QT Syndrome 1	NG_008935.1:g.335970C>T; NM_000218.3:c.1591C>T; NP_000209.2:p.Gln531Ter		965523

Download Table

External Links

https://medlineplus.gov/genetics/gene/kcnq1/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ1

Contributors

Asha Deepthi: 23.02.2021
Ghazi O. Tadmouri: 21.01.2015
Pratibha Nair: 23.11.2014
Nada Assaf: 25.09.2014

Edit History

Sami Bizzari: 11.03.2021
Asha Deepthi: 23.02.2021
Sayeeda Hana: 03.06.2020
Asha Deepthi: 30.01.2019
Pratibha Nair: 22.01.2015

Back to search Result