KChannelDB: Point mutations extracted from the literature - KCNE1_HUMAN

2005, KChannelDB.

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.

Protein	KCNE1_HUMAN (KCNE)	Swiss-Prot Cross-reference table Family page
Family alignments	IsK related channels (minK,MiRP,AMMECR2) Potassium channels 1 TM

Mutation Location General numbering Reference
R32H N-term Westenskow P et al., Circulation 2004 Medline

V47F TRANSMEM I 149 Tapper AR et al., J Gen Physiol 2000 Medline

L51H TRANSMEM I 153 Tapper AR et al., J Gen Physiol 2000 Medline

F54C TRANSMEM I 156 Kurokawa J et al., J Gen Physiol 2001 Medline

G55C TRANSMEM I 157 Tapper AR et al., J Gen Physiol 2000 Medline

G55C TRANSMEM I 157 Kurokawa J et al., J Gen Physiol 2001 Medline

G55T TRANSMEM I 157 Melman YF et al., J Biol Chem 2002 Medline

F56C TRANSMEM I 158 Kurokawa J et al., J Gen Physiol 2001 Medline

F57T TRANSMEM I 159 Melman YF et al., J Biol Chem 2002 Medline

T58A TRANSMEM I 160 Melman YF et al., J Biol Chem 2002 Medline

T58C TRANSMEM I 160 Melman YF et al., J Biol Chem 2002 Medline

T58I TRANSMEM I 160 Melman YF et al., J Biol Chem 2002 Medline

T58S TRANSMEM I 160 Melman YF et al., J Biol Chem 2002 Medline

T58V TRANSMEM I 160 Melman YF et al., J Biol Chem 2002 Medline

L59G TRANSMEM I 161 Melman YF et al., J Biol Chem 2002 Medline

S74L C-term Tapper AR et al., J Gen Physiol 2000 Medline

S74L C-term Furukawa T et al., J Mol Biol 2001 Medline

S74L C-term Westenskow P et al., Circulation 2004 Medline

D76N C-term Tapper AR et al., J Gen Physiol 2000 Medline

D76N C-term Hoppe UC et al., Proc Natl Acad Sci U S A 2001 Medline

D76N C-term Furukawa T et al., J Mol Biol 2001 Medline

D76N C-term Terrenoire C et al., Circ Res 2005 Medline

D85N C-term Westenskow P et al., Circulation 2004 Medline

D85N C-term Paulussen AD et al., J Mol Med 2004 Medline

W87R C-term Tapper AR et al., J Gen Physiol 2000 Medline

W87R C-term Terrenoire C et al., Circ Res 2005 Medline

V109I C-term Schulze-Bahr E et al., J Mol Med 2001 Medline

P127T C-term Westenskow P et al., Circulation 2004 Medline

Mutation	Location	General numbering	Reference
R32H	N-term		Westenskow P et al., Circulation 2004	Medline
V47F	TRANSMEM I	149	Tapper AR et al., J Gen Physiol 2000	Medline
L51H	TRANSMEM I	153	Tapper AR et al., J Gen Physiol 2000	Medline
F54C	TRANSMEM I	156	Kurokawa J et al., J Gen Physiol 2001	Medline
G55C	TRANSMEM I	157	Tapper AR et al., J Gen Physiol 2000	Medline
G55C	TRANSMEM I	157	Kurokawa J et al., J Gen Physiol 2001	Medline
G55T	TRANSMEM I	157	Melman YF et al., J Biol Chem 2002	Medline
F56C	TRANSMEM I	158	Kurokawa J et al., J Gen Physiol 2001	Medline
F57T	TRANSMEM I	159	Melman YF et al., J Biol Chem 2002	Medline
T58A	TRANSMEM I	160	Melman YF et al., J Biol Chem 2002	Medline
T58C	TRANSMEM I	160	Melman YF et al., J Biol Chem 2002	Medline
T58I	TRANSMEM I	160	Melman YF et al., J Biol Chem 2002	Medline
T58S	TRANSMEM I	160	Melman YF et al., J Biol Chem 2002	Medline
T58V	TRANSMEM I	160	Melman YF et al., J Biol Chem 2002	Medline
L59G	TRANSMEM I	161	Melman YF et al., J Biol Chem 2002	Medline
S74L	C-term		Tapper AR et al., J Gen Physiol 2000	Medline
S74L	C-term		Furukawa T et al., J Mol Biol 2001	Medline
S74L	C-term		Westenskow P et al., Circulation 2004	Medline
D76N	C-term		Tapper AR et al., J Gen Physiol 2000	Medline
D76N	C-term		Hoppe UC et al., Proc Natl Acad Sci U S A 2001	Medline
D76N	C-term		Furukawa T et al., J Mol Biol 2001	Medline
D76N	C-term		Terrenoire C et al., Circ Res 2005	Medline
D85N	C-term		Westenskow P et al., Circulation 2004	Medline
D85N	C-term		Paulussen AD et al., J Mol Med 2004	Medline
W87R	C-term		Tapper AR et al., J Gen Physiol 2000	Medline
W87R	C-term		Terrenoire C et al., Circ Res 2005	Medline
V109I	C-term		Schulze-Bahr E et al., J Mol Med 2001	Medline
P127T	C-term		Westenskow P et al., Circulation 2004	Medline

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