Potassium voltage-gated channel subfamily KQT member 1

Details

Name
Potassium voltage-gated channel subfamily KQT member 1
Synonyms
  • IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1
  • KCNA8
  • KCNA9
  • KQT-like 1
  • KVLQT1
  • Voltage-gated potassium channel subunit Kv7.1
Gene Name
KCNQ1
Organism
Humans
Amino acid sequence
>lcl|BSEQ0001340|Potassium voltage-gated channel subfamily KQT member 1
MAAASSPPRAERKRWGWGRLPGARRGSAGLAKKCPFSLELAEGGPAGGALYAPIAPGAPG
PAPPASPAAPAAPPVASDLGPRPPVSLDPRVSIYSTRRPVLARTHVQGRVYNFLERPTGW
KCFVYHFAVFLIVLVCLIFSVLSTIEQYAALATGTLFWMEIVLVVFFGTEYVVRLWSAGC
RSKYVGLWGRLRFARKPISIIDLIVVVASMVVLCVGSKGQVFATSAIRGIRFLQILRMLH
VDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRVEFGSYA
DALWWGVVTVTTIGYGDKVPQTWVGKTIASCFSVFAISFFALPAGILGSGFALKVQQKQR
QKHFNRQIPAAASLIQTAWRCYAAENPDSSTWKIYIRKAPRSHTLLSPSPKPKKSVVVKK
KKFKLDKDNGVTPGEKMLTVPHITCDPPEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFM
RTNSFAEDLDLEGETLLTPITHISQLREHHRATIKVIRRMQYFVAKKKFQQARKPYDVRD
VIEQYSQGHLNLMVRIKELQRRLDQSIGKPSLFISVSEKSKDRGSNTIGARLNRVEDKVT
QLDQRLALITDMLHQLLSLHGGSTPGSGGPPREGGAHITQPCGSGGSVDPELFLPSNTLP
TYEQLTVPRRGPDEGS
Number of residues
676
Molecular Weight
74697.925
Theoretical pI
10.39
GO Classification
Functions
calmodulin binding / delayed rectifier potassium channel activity / ion channel binding / outward rectifier potassium channel activity / phosphatidylinositol-4,5-bisphosphate binding / protein kinase A catalytic subunit binding / protein kinase A regulatory subunit binding / protein phosphatase 1 binding / scaffold protein binding / voltage-gated potassium channel activity / voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization / voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization / voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization
Processes
atrial cardiac muscle cell action potential / cardiac muscle contraction / cardiovascular system development / cellular response to cAMP / cellular response to drug / cellular response to epinephrine stimulus / gene silencing / membrane repolarization during action potential / membrane repolarization during cardiac muscle cell action potential / negative regulation of delayed rectifier potassium channel activity / negative regulation of voltage-gated potassium channel activity / positive regulation of cardiac muscle contraction / positive regulation of defense response to virus by host / positive regulation of heart rate / positive regulation of potassium ion transmembrane transport / potassium ion export / potassium ion export across plasma membrane / potassium ion transmembrane transport / regulation of atrial cardiac muscle cell membrane repolarization / regulation of gene expression by genetic imprinting / regulation of heart contraction / regulation of heart rate by cardiac conduction / regulation of membrane repolarization / regulation of ventricular cardiac muscle cell membrane repolarization / sensory perception of sound / synaptic transmission / ventricular cardiac muscle cell action potential / xenophagy
Components
basolateral plasma membrane / cytoplasm / cytoplasmic vesicle membrane / early endosome / endoplasmic reticulum / integral component of membrane / ion channel complex / late endosome / lysosome / membrane raft / plasma membrane / voltage-gated potassium channel complex
General Function
Voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization
Specific Function
Potassium channel that plays an important role in a number of tissues, including heart, inner ear, stomach and colon (By similarity) (PubMed:10646604). Associates with KCNE beta subunits that modulates current kinetics (By similarity) (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505, PubMed:19687231). Induces a voltage-dependent by rapidly activating and slowly deactivating potassium-selective outward current (By similarity) (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505). Promotes also a delayed voltage activated potassium current showing outward rectification characteristic (By similarity). During beta-adrenergic receptor stimulation participates in cardiac repolarization by associating with KCNE1 to form the I(Ks) cardiac potassium current that increases the amplitude and slows down the activation kinetics of outward potassium current I(Ks) (By similarity) (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505). Muscarinic agonist oxotremorine-M strongly suppresses KCNQ1/KCNE1 current (PubMed:10713961). When associated with KCNE3, forms the potassium channel that is important for cyclic AMP-stimulated intestinal secretion of chloride ions (PubMed:10646604). This interaction with KCNE3 is reduced by 17beta-estradiol, resulting in the reduction of currents (By similarity). During conditions of increased substrate load, maintains the driving force for proximal tubular and intestinal sodium ions absorption, gastric acid secretion, and cAMP-induced jejunal chloride ions secretion (By similarity). Allows the provision of potassium ions to the luminal membrane of the secretory canaliculus in the resting state as well as during stimulated acid secretion (By similarity). When associated with KCNE2, forms an heterooligomer complex leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed:11101505). When associated with KCNE4, inhibits voltage-gated potassium channel activity (PubMed:19687231). When associated with KCNE5, this complex only conducts current upon strong and continued depolarization (PubMed:12324418). Also forms an heterotetramer with KCNQ5; has a voltage-gated potassium channel activity (PubMed:24855057). Binds with phosphatidylinositol 4,5-bisphosphate (PubMed:25037568).Isoform 2: Non-functional alone but modulatory when coexpressed with the full-length isoform 1.
Pfam Domain Function
Transmembrane Regions
122-142 148-168 197-217 226-248 262-282 328-348
Cellular Location
Cell membrane
Gene sequence
>lcl|BSEQ0021653|Potassium voltage-gated channel subfamily KQT member 1 (KCNQ1)
ATGGCCGCGGCCTCCTCCCCGCCCAGGGCCGAGAGGAAGCGCTGGGGTTGGGGCCGCCTG
CCAGGCGCCCGGCGGGGCAGCGCGGGCCTGGCCAAGAAGTGCCCCTTCTCGCTGGAGCTG
GCGGAGGGCGGCCCGGCGGGCGGCGCGCTCTACGCGCCCATCGCGCCCGGCGCCCCAGGT
CCCGCGCCCCCTGCGTCCCCGGCCGCGCCCGCCGCGCCCCCAGTTGCCTCCGACCTTGGC
CCGCGGCCGCCGGTGAGCCTAGACCCGCGCGTCTCCATCTACAGCACGCGCCGCCCGGTG
TTGGCGCGCACCCACGTCCAGGGCCGCGTCTACAACTTCCTCGAGCGTCCCACCGGCTGG
AAATGCTTCGTTTACCACTTCGCCGTCTTCCTCATCGTCCTGGTCTGCCTCATCTTCAGC
GTGCTGTCCACCATCGAGCAGTATGCCGCCCTGGCCACGGGGACTCTCTTCTGGATGGAG
ATCGTGCTGGTGGTGTTCTTCGGGACGGAGTACGTGGTCCGCCTCTGGTCCGCCGGCTGC
CGCAGCAAGTACGTGGGCCTCTGGGGGCGGCTGCGCTTTGCCCGGAAGCCCATTTCCATC
ATCGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCTCTGCGTGGGCTCCAAGGGGCAG
GTGTTTGCCACGTCGGCCATCAGGGGCATCCGCTTCCTGCAGATCCTGAGGATGCTACAC
GTCGACCGCCAGGGAGGCACCTGGAGGCTCCTGGGCTCCGTGGTCTTCATCCACCGCCAG
GAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTCGTACTTTGTG
TACCTGGCTGAGAAGGACGCGGTGAACGAGTCAGGCCGCGTGGAGTTCGGCAGCTACGCA
GATGCGCTGTGGTGGGGGGTGGTCACAGTCACCACCATCGGCTATGGGGACAAGGTGCCC
CAGACGTGGGTCGGGAAGACCATCGCCTCCTGCTTCTCTGTCTTTGCCATCTCCTTCTTT
GCGCTCCCAGCGGGGATTCTTGGCTCGGGGTTTGCCCTGAAGGTGCAGCAGAAGCAGAGG
CAGAAGCACTTCAACCGGCAGATCCCGGCGGCAGCCTCACTCATTCAGACCGCATGGAGG
TGCTATGCTGCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCC
CGGAGCCACACTCTGCTGTCACCCAGCCCCAAACCCAAGAAGTCTGTGGTGGTAAAGAAA
AAAAAGTTCAAGCTGGACAAAGACAATGGGGTGACTCCTGGAGAGAAGATGCTCACAGTC
CCCCATATCACGTGCGACCCCCCAGAAGAGCGGCGGCTGGACCACTTCTCTGTCGACGGC
TATGACAGTTCTGTAAGGAAGAGCCCAACACTGCTGGAAGTGAGCATGCCCCATTTCATG
AGAACCAACAGCTTCGCCGAGGACCTGGACCTGGAAGGGGAGACTCTGCTGACACCCATC
ACCCACATCTCACAGCTGCGGGAACACCATCGGGCCACCATTAAGGTCATTCGACGCATG
CAGTACTTTGTGGCCAAGAAGAAATTCCAGCAAGCGCGGAAGCCTTACGATGTGCGGGAC
GTCATTGAGCAGTACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAGCTGCAG
AGGAGGCTGGACCAGTCCATTGGGAAGCCCTCACTGTTCATCTCCGTCTCAGAAAAGAGC
AAGGATCGCGGCAGCAACACGATCGGCGCCCGCCTGAACCGAGTAGAAGACAAGGTGACG
CAGCTGGACCAGAGGCTGGCACTCATCACCGACATGCTTCACCAGCTGCTCTCCTTGCAC
GGTGGCAGCACCCCCGGCAGCGGCGGCCCCCCCAGAGAGGGCGGGGCCCACATCACCCAG
CCCTGCGGCAGTGGCGGCTCCGTCGACCCTGAGCTCTTCCTGCCCAGCAACACCCTGCCC
ACCTACGAGCAGCTGACCGTGCCCAGGAGGGGCCCCGATGAGGGGTCCTGA
Chromosome Location
11
Locus
11p15.5
External Identifiers
ResourceLink
UniProtKB IDP51787
UniProtKB Entry NameKCNQ1_HUMAN
GenBank Protein ID2465531
GenBank Gene IDAF000571
GenAtlas IDKCNQ1
HGNC IDHGNC:6294
General References
  1. Chouabe C, Neyroud N, Guicheney P, Lazdunski M, Romey G, Barhanin J: Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. EMBO J. 1997 Sep 1;16(17):5472-9. [PubMed:9312006]
  2. Jiang M, Tseng-Crank J, Tseng GN: Suppression of slow delayed rectifier current by a truncated isoform of KvLQT1 cloned from normal human heart. J Biol Chem. 1997 Sep 26;272(39):24109-12. [PubMed:9305853]
  3. Itoh T, Tanaka T, Nagai R, Kikuchi K, Ogawa S, Okada S, Yamagata S, Yano K, Yazaki Y, Nakamura Y: Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome. Hum Genet. 1998 Sep;103(3):290-4. [PubMed:9799083]
  4. Neyroud N, Richard P, Vignier N, Donger C, Denjoy I, Demay L, Shkolnikova M, Pesce R, Chevalier P, Hainque B, Coumel P, Schwartz K, Guicheney P: Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome. Circ Res. 1999 Feb 19;84(3):290-7. [PubMed:10024302]
  5. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed:14702039]
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  8. Yang WP, Levesque PC, Little WA, Conder ML, Shalaby FY, Blanar MA: KvLQT1, a voltage-gated potassium channel responsible for human cardiac arrhythmias. Proc Natl Acad Sci U S A. 1997 Apr 15;94(8):4017-21. [PubMed:9108097]
  9. Sanguinetti MC, Curran ME, Zou A, Shen J, Spector PS, Atkinson DL, Keating MT: Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel. Nature. 1996 Nov 7;384(6604):80-3. [PubMed:8900283]
  10. Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, VanRaay TJ, Shen J, Timothy KW, Vincent GM, de Jager T, Schwartz PJ, Toubin JA, Moss AJ, Atkinson DL, Landes GM, Connors TD, Keating MT: Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet. 1996 Jan;12(1):17-23. [PubMed:8528244]
  11. Schmitt N, Schwarz M, Peretz A, Abitbol I, Attali B, Pongs O: A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly. EMBO J. 2000 Feb 1;19(3):332-40. [PubMed:10654932]
  12. Tinel N, Diochot S, Borsotto M, Lazdunski M, Barhanin J: KCNE2 confers background current characteristics to the cardiac KCNQ1 potassium channel. EMBO J. 2000 Dec 1;19(23):6326-30. [PubMed:11101505]
  13. Selyanko AA, Hadley JK, Wood IC, Abogadie FC, Jentsch TJ, Brown DA: Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptors. J Physiol. 2000 Feb 1;522 Pt 3:349-55. [PubMed:10713961]
  14. Schroeder BC, Waldegger S, Fehr S, Bleich M, Warth R, Greger R, Jentsch TJ: A constitutively open potassium channel formed by KCNQ1 and KCNE3. Nature. 2000 Jan 13;403(6766):196-9. [PubMed:10646604]
  15. Angelo K, Jespersen T, Grunnet M, Nielsen MS, Klaerke DA, Olesen SP: KCNE5 induces time- and voltage-dependent modulation of the KCNQ1 current. Biophys J. 2002 Oct;83(4):1997-2006. [PubMed:12324418]
  16. Marx SO, Kurokawa J, Reiken S, Motoike H, D'Armiento J, Marks AR, Kass RS: Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel. Science. 2002 Jan 18;295(5554):496-9. [PubMed:11799244]
  17. Vanoye CG, Welch RC, Daniels MA, Manderfield LJ, Tapper AR, Sanders CR, George AL Jr: Distinct subdomains of the KCNQ1 S6 segment determine channel modulation by different KCNE subunits. J Gen Physiol. 2009 Sep;134(3):207-17. doi: 10.1085/jgp.200910234. Epub 2009 Aug 17. [PubMed:19687231]
  18. Roura-Ferrer M, Sole L, Oliveras A, Dahan R, Bielanska J, Villarroel A, Comes N, Felipe A: Impact of KCNE subunits on KCNQ1 (Kv7.1) channel membrane surface targeting. J Cell Physiol. 2010 Nov;225(3):692-700. doi: 10.1002/jcp.22265. [PubMed:20533308]
  19. Andersen MN, Olesen SP, Rasmussen HB: Kv7.1 surface expression is regulated by epithelial cell polarization. Am J Physiol Cell Physiol. 2011 Apr;300(4):C814-24. doi: 10.1152/ajpcell.00390.2010. Epub 2011 Jan 12. [PubMed:21228319]
  20. Krzystanek K, Rasmussen HB, Grunnet M, Staub O, Olesen SP, Abriel H, Jespersen T: Deubiquitylating enzyme USP2 counteracts Nedd4-2-mediated downregulation of KCNQ1 potassium channels. Heart Rhythm. 2012 Mar;9(3):440-8. doi: 10.1016/j.hrthm.2011.10.026. Epub 2011 Oct 22. [PubMed:22024150]
  21. Rapetti-Mauss R, O'Mahony F, Sepulveda FV, Urbach V, Harvey BJ: Oestrogen promotes KCNQ1 potassium channel endocytosis and postendocytic trafficking in colonic epithelium. J Physiol. 2013 Jun 1;591(11):2813-31. doi: 10.1113/jphysiol.2013.251678. Epub 2013 Mar 25. [PubMed:23529131]
  22. Oliveras A, Roura-Ferrer M, Sole L, de la Cruz A, Prieto A, Etxebarria A, Manils J, Morales-Cano D, Condom E, Soler C, Cogolludo A, Valenzuela C, Villarroel A, Comes N, Felipe A: Functional assembly of Kv7.1/Kv7.5 channels with emerging properties on vascular muscle physiology. Arterioscler Thromb Vasc Biol. 2014 Jul;34(7):1522-30. doi: 10.1161/ATVBAHA.114.303801. Epub 2014 May 22. [PubMed:24855057]
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  24. Xu Q, Minor DL Jr: Crystal structure of a trimeric form of the K(V)7.1 (KCNQ1) A-domain tail coiled-coil reveals structural plasticity and context dependent changes in a putative coiled-coil trimerization motif. Protein Sci. 2009 Oct;18(10):2100-14. doi: 10.1002/pro.224. [PubMed:19693805]
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  28. de Jager T, Corbett CH, Badenhorst JC, Brink PA, Corfield VA: Evidence of a long QT founder gene with varying phenotypic expression in South African families. J Med Genet. 1996 Jul;33(7):567-73. [PubMed:8818942]
  29. Tanaka T, Nagai R, Tomoike H, Takata S, Yano K, Yabuta K, Haneda N, Nakano O, Shibata A, Sawayama T, Kasai H, Yazaki Y, Nakamura Y: Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. Circulation. 1997 Feb 4;95(3):565-7. [PubMed:9024139]
  30. Donger C, Denjoy I, Berthet M, Neyroud N, Cruaud C, Bennaceur M, Chivoret G, Schwartz K, Coumel P, Guicheney P: KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. Circulation. 1997 Nov 4;96(9):2778-81. [PubMed:9386136]
  31. van den Berg MH, Wilde AA, Robles de Medina EO, Meyer H, Geelen JL, Jongbloed RJ, Wellens HJ, Geraedts JP: The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene. Hum Genet. 1997 Sep;100(3-4):356-61. [PubMed:9272155]
  32. Wollnik B, Schroeder BC, Kubisch C, Esperer HD, Wieacker P, Jentsch TJ: Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias. Hum Mol Genet. 1997 Oct;6(11):1943-9. [PubMed:9302275]
  33. Li H, Chen Q, Moss AJ, Robinson J, Goytia V, Perry JC, Vincent GM, Priori SG, Lehmann MH, Denfield SW, Duff D, Kaine S, Shimizu W, Schwartz PJ, Wang Q, Towbin JA: New mutations in the KVLQT1 potassium channel that cause long-QT syndrome. Circulation. 1998 Apr 7;97(13):1264-9. [PubMed:9570196]
  34. Priori SG, Schwartz PJ, Napolitano C, Bianchi L, Dennis A, De Fusco M, Brown AM, Casari G: A recessive variant of the Romano-Ward long-QT syndrome? Circulation. 1998 Jun 23;97(24):2420-5. [PubMed:9641694]
  35. Neyroud N, Denjoy I, Donger C, Gary F, Villain E, Leenhardt A, Benali K, Schwartz K, Coumel P, Guicheney P: Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome. Eur J Hum Genet. 1998 Mar-Apr;6(2):129-33. [PubMed:9781056]
  36. Splawski I, Shen J, Timothy KW, Vincent GM, Lehmann MH, Keating MT: Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. Genomics. 1998 Jul 1;51(1):86-97. [PubMed:9693036]
  37. Saarinen K, Swan H, Kainulainen K, Toivonen L, Viitasalo M, Kontula K: Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred. Hum Mutat. 1998;11(2):158-65. [PubMed:9482580]
  38. Ackerman MJ, Schroeder JJ, Berry R, Schaid DJ, Porter CJ, Michels VV, Thibodeau SN: A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family. Pediatr Res. 1998 Aug;44(2):148-53. [PubMed:9702906]
  39. Mohammad-Panah R, Demolombe S, Neyroud N, Guicheney P, Kyndt F, van den Hoff M, Baro I, Escande D: Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias. Am J Hum Genet. 1999 Apr;64(4):1015-23. [PubMed:10090886]
  40. Denjoy I, Lupoglazoff JM, Donger C, Berthet M, Richard P, Neyroud N, Villain E, Lucet V, Coumel P, Guicheney P: [Congenital long QT syndrome. The value of genetics in prognostic evaluation]. Arch Mal Coeur Vaiss. 1999 May;92(5):557-63. [PubMed:10367071]
  41. Priori SG, Napolitano C, Schwartz PJ: Low penetrance in the long-QT syndrome: clinical impact. Circulation. 1999 Feb 2;99(4):529-33. [PubMed:9927399]
  42. Larsen LA, Fosdal I, Andersen PS, Kanters JK, Vuust J, Wettrell G, Christiansen M: Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. Eur J Hum Genet. 1999 Sep;7(6):724-8. [PubMed:10482963]
  43. Jongbloed RJ, Wilde AA, Geelen JL, Doevendans P, Schaap C, Van Langen I, van Tintelen JP, Cobben JM, Beaufort-Krol GC, Geraedts JP, Smeets HJ: Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. Hum Mutat. 1999;13(4):301-10. [PubMed:10220144]
  44. Larsen LA, Christiansen M, Vuust J, Andersen PS: High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants. Hum Mutat. 1999;13(4):318-27. [PubMed:10220146]
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Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB01244Bepridilapproved, withdrawnunknowninhibitorDetails
DB04957AzimilideinvestigationalunknownDetails
DB06089ICA-105665investigationalunknownDetails
DB11633Isavuconazoleapproved, investigationalnoinhibitorDetails