KChannelDB: Point mutations extracted from the literature - KCNQ1_HUMAN

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This data was extracted from medline abstracts and full text papers (when available) in an automated manner.

Each point mutation is linked to the entry specific to the residue position. Citations are linked to the list of point mutations found in the corresponding articles. The last column allows you to go back to the original text via Medline.

ProteinKCNQ1_HUMAN (KCNQ1,KCNA8, KCNA9, KVLQT)Swiss-Prot
Cross-reference table
Family page
Protein isoforms2
Family alignments KQT related KCNQ (Kv7)
K+ voltage-gated channels (Kv1-12,Kca2-5)
Potassium channels 6 TMs

MutationLocationGeneral numberingReference
A3CN-term Seebohm G et al., Mol Pharmacol 2003Medline
S27AN-term Yang T et al., Circulation 2003Medline
A49PN-term Robbins et al., Pharmacol Ther 2001Medline
Y51AN-term Jespersen T et al., J Cell Sci 2004Medline
L60PN-term Huang L et al., Cardiovasc Res 2001Medline
K69HN-term Abbott GW et al., FASEB J 2002Medline
G89DN-term Saucerman JJ et al., Circ Res 2004Medline
Y111AN-term Jespersen T et al., J Cell Sci 2004Medline
Y111CN-term Jespersen T et al., J Cell Sci 2004Medline
C136ATRANSMEM I151Tapper AR et al., J Biol Chem 2001Medline
S140GTRANSMEM I155Bellocq C et al., Circulation 2004Medline
L144FLoop 1-2 Robbins et al., Pharmacol Ther 2001Medline
Y148XLoop 1-2 Gouas L et al., Cardiovasc Res 2004Medline
G168RTRANSMEM II251Westenskow P et al., Circulation 2004Medline
Y171XTRANSMEM II254Piippo K et al., J Am Coll Cardiol 2001Medline
Y171XTRANSMEM II254Wang Z et al., Mol Genet Metab 2002Medline
R174CTRANSMEM II257Chouabe C et al., Cardiovasc Res 2000Medline
G179SLoop 2-3 Westenskow P et al., Circulation 2004Medline
R190QTRANSMEM III343Chouabe C et al., Cardiovasc Res 2000Medline
F193LTRANSMEM III346Yamaguchi M et al., Clin Sci (Lond) 2003Medline
D202NTRANSMEM III355Wang Z et al., Mol Genet Metab 2002Medline
C214ALoop 3-4 Tapper AR et al., J Biol Chem 2001Medline
S225LTRANSMEM IV444Bianchi L et al., Am J Physiol Heart Circ Physiol 2000Medline
R231CTRANSMEM IV450Lupoglazoff JM et al., J Am Coll Cardiol 2004Medline
R239STRANSMEM IV458Manganas LN et al., J Biol Chem 2001Medline
R243CLoop 4-5 Chouabe C et al., Cardiovasc Res 2000Medline
R243CLoop 4-5 Skinner JR et al., J Paediatr Child Health 2004Medline
R243CLoop 4-5 Seebohm G et al., Circ Res 2003Medline
R243CLoop 4-5 Dworakowska B et al., Acta Biochim Pol 2000Medline
R243HLoop 4-5 Chouabe C et al., Cardiovasc Res 2000Medline
R243HLoop 4-5 Park KH et al., Circ Res 2005Medline
R243HLoop 4-5 Kobori A et al., J Cardiovasc Electrophysiol 2004Medline
R243HLoop 4-5 Dworakowska B et al., Acta Biochim Pol 2000Medline
W248RLoop 4-5 Seebohm G et al., Circ Res 2003Medline
W248RLoop 4-5 Dworakowska B et al., Acta Biochim Pol 2000Medline
L251PLoop 4-5 Deschenes D et al., Can J Physiol Pharmacol 2003Medline
V254MLoop 4-5 Paulussen A et al., Genet Test 2003Medline
V254MLoop 4-5 Lupoglazoff JM et al., Circulation 2001Medline
V254MLoop 4-5 Wedekind H et al., Clin Genet 2004Medline
R259CLoop 4-5 Kubota T et al., J Cardiovasc Electrophysiol 2000Medline
E261KLoop 4-5 Seebohm G et al., Circ Res 2003Medline
E261KLoop 4-5 Dworakowska B et al., Acta Biochim Pol 2000Medline
Y267ATRANSMEM V553Seebohm G et al., Circ Res 2003Medline
I268ATRANSMEM V554Seebohm G et al., Circ Res 2003Medline
G269ATRANSMEM V555Seebohm G et al., Circ Res 2003Medline
G269DTRANSMEM V555Chouabe C et al., Cardiovasc Res 2000Medline
G269DTRANSMEM V555Wang Z et al., Mol Genet Metab 2002Medline
F270ATRANSMEM V556Seebohm G et al., Circ Res 2003Medline
G272CTRANSMEM V558Seebohm G et al., J Biol Chem 2001Medline
G272TTRANSMEM V558Seebohm G et al., J Biol Chem 2001Medline
L273ATRANSMEM V559Seebohm G et al., Circ Res 2003Medline
L273FTRANSMEM V559Seebohm G et al., Circ Res 2003Medline
F275STRANSMEM V561Liu W et al., Hum Mutat 2002Medline
S277LTRANSMEM V563Liu W et al., Hum Mutat 2002Medline
S277LTRANSMEM V563Liu W et al., Chin Med J (Engl) 2003Medline
L278FTRANSMEM V564Dworakowska B et al., Acta Biochim Pol 2000Medline
Y281CLoop 5-6 Bianchi L et al., Am J Physiol Heart Circ Physiol 2000Medline
A300TLoop 5-6 Chouabe C et al., Cardiovasc Res 2000Medline
A300TLoop 5-6 Bianchi L et al., Am J Physiol Heart Circ Physiol 2000Medline
A300TLoop 5-6 Dworakowska B et al., Acta Biochim Pol 2000Medline
G306RLoop 5-6 Li RA et al., J Physiol 2001Medline
G306RLoop 5-6 Seebohm G et al., Circ Res 2003Medline
V307LLoop 5-6 Seebohm G et al., J Biol Chem 2001Medline
V307LLoop 5-6 Bellocq C et al., Circulation 2004Medline
V308ILoop 5-6 Seebohm G et al., J Biol Chem 2001Medline
T309ILoop 5-6 Ko YL et al., J Formos Med Assoc 2001Medline
T309SLoop 5-6 Seebohm G et al., Mol Pharmacol 2003Medline
T309SLoop 5-6 Seebohm G et al., Circ Res 2003Medline
V310ILoop 5-6 Westenskow P et al., Circulation 2004Medline
V310LLoop 5-6 Seebohm G et al., Mol Pharmacol 2003Medline
V310LLoop 5-6 Seebohm G et al., J Biol Chem 2001Medline
T311ALoop 5-6 Seebohm G et al., Mol Pharmacol 2003Medline
T312ILoop 5-6 Westenskow P et al., Circulation 2004Medline
T312SLoop 5-6 Seebohm G et al., Mol Pharmacol 2003Medline
G314SLoop 5-6 Schmitt N et al., EMBO J 2000Medline
G314SLoop 5-6 Chouabe C et al., Cardiovasc Res 2000Medline
G314SLoop 5-6 Westenskow P et al., Circulation 2004Medline
Y315CLoop 5-6 Bianchi L et al., Am J Physiol Heart Circ Physiol 2000Medline
Y315SLoop 5-6 Chouabe C et al., Cardiovasc Res 2000Medline
K318ILoop 5-6 Kurokawa J et al., J Gen Physiol 2001Medline
K318ILoop 5-6 Chen H et al., Biophys J 2003Medline
K318ILoop 5-6 Chen H et al., Neuron 2003Medline
V319YLoop 5-6 Kurokawa J et al., J Gen Physiol 2001Medline
V319YLoop 5-6 Chen H et al., Biophys J 2003Medline
V319YLoop 5-6 Chen H et al., Neuron 2003Medline
G325RLoop 5-6 Lupoglazoff JM et al., J Am Coll Cardiol 2004Medline
I328CLoop 5-6 Tapper AR et al., J Biol Chem 2001Medline
C331ATRANSMEM VI645Tapper AR et al., J Biol Chem 2001Medline
F335ATRANSMEM VI649Seebohm G et al., Mol Pharmacol 2003Medline
I337ATRANSMEM VI651Seebohm G et al., Mol Pharmacol 2003Medline
I337VTRANSMEM VI651Seebohm G et al., Mol Pharmacol 2003Medline
F339ATRANSMEM VI653Seebohm G et al., Mol Pharmacol 2003Medline
F339ATRANSMEM VI653Seebohm G et al., Circ Res 2003Medline
F340ATRANSMEM VI654Seebohm G et al., Mol Pharmacol 2003Medline
F340ATRANSMEM VI654Seebohm G et al., Circ Res 2003Medline
F340YTRANSMEM VI654Seebohm G et al., Mol Pharmacol 2003Medline
F340YTRANSMEM VI654Seebohm G et al., Circ Res 2003Medline
A341VTRANSMEM VI655Westenskow P et al., Circulation 2004Medline
A341VTRANSMEM VI655Kobori A et al., J Cardiovasc Electrophysiol 2004Medline
A341VTRANSMEM VI655Seebohm G et al., Circ Res 2003Medline
L342FTRANSMEM VI656Chouabe C et al., Cardiovasc Res 2000Medline
P343ATRANSMEM VI657Seebohm G et al., Mol Pharmacol 2003Medline
P343ATRANSMEM VI657Seebohm G et al., Circ Res 2003Medline
P343STRANSMEM VI657Zehelein J et al., Biochim Biophys Acta 2004Medline
A344CTRANSMEM VI658Seebohm G et al., Mol Pharmacol 2003Medline
G345ATRANSMEM VI659Seebohm G et al., Mol Pharmacol 2003Medline
G345ETRANSMEM VI659Seebohm G et al., Circ Res 2003Medline
I346ATRANSMEM VI660Seebohm G et al., Mol Pharmacol 2003Medline
L347ATRANSMEM VI661Seebohm G et al., Mol Pharmacol 2003Medline
S357DC-term Oberholzer U et al., Eukaryot Cell 2002Medline
T391IC-term Westenskow P et al., Circulation 2004Medline
V417MC-term Wedekind H et al., Clin Genet 2004Medline
G421AC-term Manganas LN et al., J Biol Chem 2001Medline
P448RC-term Yang P et al., Circulation 2002Medline
P448RC-term Westenskow P et al., Circulation 2004Medline
S468AC-term Yang T et al., Circulation 2003Medline
T470AC-term Yang T et al., Circulation 2003Medline
R518XC-term Ning L et al., Ann Noninvasive Electrocardiol 2003Medline
R518XC-term Wei J et al., Hum Mutat 2000Medline
S520PC-term Dworakowska B et al., Acta Biochim Pol 2000Medline
V524IC-term Fukuyama S et al., Kidney Int 2003Medline
Q530XC-term Ning L et al., Ann Noninvasive Electrocardiol 2003Medline
Q530XC-term Westenskow P et al., Circulation 2004Medline
R533WC-term Chouabe C et al., Cardiovasc Res 2000Medline
R533WC-term Yamashita F et al., J Mol Cell Cardiol 2001Medline
R539WC-term Chouabe C et al., Cardiovasc Res 2000Medline
R539WC-term Yamashita F et al., J Mol Cell Cardiol 2001Medline
R539WC-term Park KH et al., Circ Res 2005Medline
R539WC-term Kanki H et al., J Biol Chem 2004Medline
L552SC-term Piippo K et al., J Am Coll Cardiol 2001Medline
R555CC-term Chouabe C et al., Cardiovasc Res 2000Medline
R555CC-term Yamashita F et al., J Mol Cell Cardiol 2001Medline
R555CC-term Park KH et al., Circ Res 2005Medline
R555CC-term Yang P et al., Circulation 2002Medline
R555CC-term Kanki H et al., J Biol Chem 2004Medline
R555CC-term Lupoglazoff JM et al., J Am Coll Cardiol 2004Medline
R555CC-term Dworakowska B et al., Acta Biochim Pol 2000Medline
R555HC-term Lupoglazoff JM et al., J Am Coll Cardiol 2004Medline
E578KC-term Fukuyama S et al., Kidney Int 2003Medline
R583CC-term Yang P et al., Circulation 2002Medline
R583CC-term Kanki H et al., J Biol Chem 2004Medline
T587MC-term Yamashita F et al., J Mol Cell Cardiol 2001Medline
T587MC-term Kanki H et al., J Biol Chem 2004Medline
G589DC-term Paavonen KJ et al., Cardiovasc Res 2003Medline
G589DC-term Piippo K et al., J Am Coll Cardiol 2001Medline
G589DC-term Saucerman JJ et al., Circ Res 2004Medline
G589DC-term Fodstad H et al., Ann Med 2004Medline
G589DC-term Kanki H et al., J Biol Chem 2004Medline
A590TC-term Lupoglazoff JM et al., J Am Coll Cardiol 2004Medline
R591HC-term Kanki H et al., J Biol Chem 2004Medline
R594QC-term Kanki H et al., J Biol Chem 2004Medline
R594QC-term Westenskow P et al., Circulation 2004Medline
L602DC-term Kanki H et al., J Biol Chem 2004Medline
L602PC-term Kanki H et al., J Biol Chem 2004Medline
L606DC-term Kanki H et al., J Biol Chem 2004Medline
I609DC-term Kanki H et al., J Biol Chem 2004Medline
I609PC-term Kanki H et al., J Biol Chem 2004Medline
D611YC-term Yamaguchi M et al., Clin Sci (Lond) 2005Medline
L613DC-term Kanki H et al., J Biol Chem 2004Medline
L613PC-term Kanki H et al., J Biol Chem 2004Medline
L619FC-term Lupoglazoff JM et al., J Am Coll Cardiol 2004Medline
G643SC-term Kubota T et al., J Cardiovasc Electrophysiol 2001Medline

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F.Horn (kchanneldbcmbi.ru.nl), 17-Aug-2005