KChannelDB: Point mutations extracted from the literature - IRK2_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.

ProteinIRK2_HUMAN (KCNJ2,HIRK)Swiss-Prot
Cross-reference table
Family page
Family alignments Inward rectifiers (Kir)
Potassium channels 2 TMs

MutationLocationGeneral numberingReference
M1PN-term Murata Y et al., J Physiol 2002Medline
H53CN-term Lopes CM et al., Neuron 2002Medline
H53QN-term Lopes CM et al., Neuron 2002Medline
R67CN-term Lopes CM et al., Neuron 2002Medline
R67KN-term Lopes CM et al., Neuron 2002Medline
R67QN-term Lopes CM et al., Neuron 2002Medline
R67WN-term Bendahhou S et al., J Biol Chem 2003Medline
R67WN-term Donaldson MR et al., Neurology 2003Medline
R67WN-term Chun TU et al., Heart Rhythm 2004Medline
R67WN-term Andelfinger G et al., Am J Hum Genet 2002Medline
D71NN-term Donaldson MR et al., Neurology 2003Medline
D71VN-term Bendahhou S et al., J Biol Chem 2003Medline
D71VN-term Hosaka Y et al., J Mol Cell Cardiol 2003Medline
D71VN-term Ai T et al., Circulation 2002Medline
D71VN-term Lopes CM et al., Neuron 2002Medline
D71VN-term Tristani-Firouzi M et al., J Clin Invest 2002Medline
T75RN-term Bendahhou S et al., J Biol Chem 2003Medline
T75RN-term Donaldson MR et al., Neurology 2003Medline
C76SN-term Garneau L et al., Biophys J 2003Medline
I79TN-term Karle CA et al., Circulation 2002Medline
R82CN-term Lopes CM et al., Neuron 2002Medline
R82QN-term Lopes CM et al., Neuron 2002Medline
S95ETRANSMEM I149Yi BA et al., Proc Natl Acad Sci U S A 2001Medline
W96ATRANSMEM I150Yi BA et al., Proc Natl Acad Sci U S A 2001Medline
F99ATRANSMEM I153Yi BA et al., Proc Natl Acad Sci U S A 2001Medline
C101RTRANSMEM I155Chun TU et al., Heart Rhythm 2004Medline
E125DLoop 1-2 Murata Y et al., J Physiol 2002Medline
E125KLoop 1-2 Murata Y et al., J Physiol 2002Medline
E125NLoop 1-2 Murata Y et al., J Physiol 2002Medline
E125QLoop 1-2 Murata Y et al., J Physiol 2002Medline
S136FLoop 1-2 Bendahhou S et al., J Biol Chem 2003Medline
S136FLoop 1-2 Tristani-Firouzi M et al., J Clin Invest 2002Medline
G144SLoop 1-2 Bendahhou S et al., J Biol Chem 2003Medline
G144SLoop 1-2 Donaldson MR et al., Neurology 2003Medline
G144SLoop 1-2 Tristani-Firouzi M et al., J Clin Invest 2002Medline
G144SLoop 1-2 Kobori A et al., J Cardiovasc Electrophysiol 2004Medline
G146DLoop 1-2 Bendahhou S et al., J Biol Chem 2003Medline
G146DLoop 1-2 Donaldson MR et al., Neurology 2003Medline
R148HLoop 1-2 Murata Y et al., J Physiol 2002Medline
C154FLoop 1-2 Bendahhou S et al., J Physiol 2005Medline
V161WTRANSMEM II247Yi BA et al., Proc Natl Acad Sci U S A 2001Medline
Q164STRANSMEM II250Yi BA et al., Proc Natl Acad Sci U S A 2001Medline
C169VTRANSMEM II255Lu T et al., J Gen Physiol 2001Medline
D172NTRANSMEM II258Priori SG et al., Circ Res 2005Medline
D172NTRANSMEM II258Guo D et al., J Gen Physiol 2001Medline
K182CC-term Lopes CM et al., Neuron 2002Medline
K182QC-term Lopes CM et al., Neuron 2002Medline
K182RC-term Lopes CM et al., Neuron 2002Medline
K185QC-term Lopes CM et al., Neuron 2002Medline
P186LC-term Bendahhou S et al., J Biol Chem 2003Medline
P186LC-term Donaldson MR et al., Neurology 2003Medline
P186LC-term Tristani-Firouzi M et al., J Clin Invest 2002Medline
K187CC-term Lopes CM et al., Neuron 2002Medline
K187QC-term Lopes CM et al., Neuron 2002Medline
K188CC-term Lopes CM et al., Neuron 2002Medline
K188QC-term Lopes CM et al., Neuron 2002Medline
R189CC-term Lopes CM et al., Neuron 2002Medline
R189IC-term Bendahhou S et al., J Biol Chem 2003Medline
R189IC-term Donaldson MR et al., Neurology 2003Medline
R189QC-term Lopes CM et al., Neuron 2002Medline
T192AC-term Donaldson MR et al., Neurology 2003Medline
T192AC-term Hosaka Y et al., J Mol Cell Cardiol 2003Medline
T192AC-term Ai T et al., Circulation 2002Medline
G215DC-term Hosaka Y et al., J Mol Cell Cardiol 2003Medline
N216HC-term Bendahhou S et al., J Biol Chem 2003Medline
N216HC-term Donaldson MR et al., Neurology 2003Medline
N216HC-term Tristani-Firouzi M et al., J Clin Invest 2002Medline
R218CC-term Lopes CM et al., Neuron 2002Medline
R218KC-term Lopes CM et al., Neuron 2002Medline
R218QC-term Donaldson MR et al., Neurology 2003Medline
R218QC-term Lopes CM et al., Neuron 2002Medline
R218QC-term Tristani-Firouzi M et al., J Clin Invest 2002Medline
R218QC-term Bendahhou S et al., J Biol Chem 2003Medline
R218WC-term Donaldson MR et al., Neurology 2003Medline
R218WC-term Hosaka Y et al., J Mol Cell Cardiol 2003Medline
R218WC-term Ai T et al., Circulation 2002Medline
R218WC-term Lopes CM et al., Neuron 2002Medline
R218WC-term Tristani-Firouzi M et al., J Clin Invest 2002Medline
R218WC-term Bendahhou S et al., J Biol Chem 2003Medline
K219CC-term Lopes CM et al., Neuron 2002Medline
K219QC-term Lopes CM et al., Neuron 2002Medline
R228QC-term Lopes CM et al., Neuron 2002Medline
H271KC-term Lopes CM et al., Neuron 2002Medline
H271QC-term Lopes CM et al., Neuron 2002Medline
H271RC-term Lopes CM et al., Neuron 2002Medline
G300DC-term Donaldson MR et al., Neurology 2003Medline
G300VC-term Donaldson MR et al., Neurology 2003Medline
G300VC-term Lopes CM et al., Neuron 2002Medline
G300VC-term Tristani-Firouzi M et al., J Clin Invest 2002Medline
G300VC-term Bendahhou S et al., J Biol Chem 2003Medline
V302MC-term Tristani-Firouzi M et al., J Clin Invest 2002Medline
V302MC-term Bendahhou S et al., J Biol Chem 2003Medline
E303KC-term Donaldson MR et al., Neurology 2003Medline
E303KC-term Lopes CM et al., Neuron 2002Medline
E303KC-term Tristani-Firouzi M et al., J Clin Invest 2002Medline
E303KC-term Bendahhou S et al., J Biol Chem 2003Medline
T309IC-term Bendahhou S et al., J Physiol 2005Medline
C311AC-term Garneau L et al., Biophys J 2003Medline
C311RC-term Garneau L et al., Biophys J 2003Medline
C311SC-term Garneau L et al., Biophys J 2003Medline
R312CC-term Donaldson MR et al., Neurology 2003Medline
R312CC-term Lopes CM et al., Neuron 2002Medline
R312CC-term Bendahhou S et al., J Biol Chem 2003Medline
R312KC-term Lopes CM et al., Neuron 2002Medline
R312QC-term Lopes CM et al., Neuron 2002Medline
S313AC-term Lopes CM et al., Neuron 2002Medline
S314AC-term Bendahhou S et al., J Biol Chem 2003Medline
Y315AC-term Bendahhou S et al., J Biol Chem 2003Medline
N318AC-term Bendahhou S et al., J Biol Chem 2003Medline

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