KCNJ2

Andersen Syndrome: Locus table - Andersen syndrome: synopsis


OMIM: 170390

KCNJ2: cDNA; Gene: 3759; Unigene

Protein: AAF73241 -

 

Nucleotide
Change
Amino Acid Change
Mutation
Type
Functional Effect
QTc (ms)
Arrhythmia
Age of Onset
References
C199T
Missense
Dominant-negative; PIP2 binding
normal
Polymorphic VT;
12
G200A
R67Q
Missense Reduced IK1; no dominant negative
normal isolated PCVs, polymorphic VT
13
Haruna et al 2007; Eckhardt et al. 2007
T202C
Y68D
Missense N7A N/A N/A   Davies et al. 2005
A212T
Missense
Dominant-negative
513
None
N/A
G211A
Missense
PIP2 binding
546
Bigeminy, polymorphic VT
  Donaldson et al. 2003
 
Missense
Trafficking defect
 
 
  Zhang et al. 2005; Ballester et al 2006
A223G
Missense
Dominant-negative
444(1)
none
N/A
Fostad et al 2004
C224G
Missense
PIP2 binding
470
Bigeminy, bidirectional VT
  Donaldson et al. 2003
C224T
T75M
Missense PIP2binding EPdata 490 Bidirectional VT
N/A
Tani I et al. 2007
A233G
D78G
Missense   N/A N/A (periodic paralysis)
8
Davies et al. 2005
C244T
Missense
440 Ventricular ectopies, syndope
9
Tester et al 2006
G245A
R82Q
Missense Dominant negative 480 Bidirectional VT (with periodic paralysis)
15
Davies et al. 2005
513-524del
Deletion
Dominant-negative; trafficking defect
475
Bigeminy, polymorphic VT
12
C301T
C101R
Missense -       Zhang et al. 2005
T368G
V123G
Missense N/A N/A none
18
Davies et al. 2005
-
Missense
Dominant-negative
500
Bigeminy
N/A
G431C
Missense Trafficking defect       Zhang et al. 2005; Ballester et al 2006
G430A
Missense
Dominant-negative
480
Bidirectional VT
N/A
G437A
Missense
PIP2 binding
normal
none
  Donaldson et al. 2003
-
Deletion
M2 region-functional data N.A.
456(1)
none
N/A
Fostad et al 2004
C557T
Missense
Dominant-negative; PIP2 binding
RBBB
Polymorphic VT
N/A
G566T
Missense
PIP2 binding
N/A
N/A
  Donaldson et al. 2003
Missense
Haplo-insufficiency; PIP2 binding
680
Bigeminy, frequent PVC
12
A644G
Missense
Dominant Negative
480
(excluding prominent U waves)
VT (inducible at PES)
8
Hosaka et al 2003; Haruna et al 2007
A646C
Missense
Dominant-negative; PIP2 binding
470
Bidrectional VT and non-fatal cardiac arrest
4
T650C
L217P
Missense Dominant negetive N/A N/A
5
Davies et al. 2005
C652T
Missense
Dominant-negative; PIP2 binding
560 1st degree AV block
Bigeminy, torsades, non-fatal cardiac arrest.
10
C652T
Missense
Dominant-negative; PIP2 binding
488
Bigeminy, polymorphic VT
13
G653A
Missense
Dominant-negative; PIP2 binding
469
None
15
G679T
Missense - 405 Non sustained polymorphic VT
17
Tester et al 2006
G899A
Missense
PIP2 binding
N/A
Bigeminy
  Donaldson et al. 2003
G899T
Missense
Dominant-negative; PIP2 binding
480
Bigeminy, polymorphic VT
19
Tristani-Firouzi at al, 2002; Haruna et al 2007
G904A
Missense
Dominant-negative; PIP2 binding; trafficking defect
RBBB
Bigeminy
N/A
Tristani-Firouzi at al, 2002
G907A
Missense
Dominant-negative; PIP2 binding
495
Frequent PVCs
N/A
Tristani-Firouzi at al, 2002
A913G
T305A
Missense Mild dominant negative effect
N/A Asymptomatic/Ventricular ectopy Polymorphic VT
11
Eckhardt et al. 2007
-
M307I
Missense PIP2 binding. trafficking defect N/A Frequent PVCs
16
Choi et al 2007
C926T
T309I
Missense - N/A N/A
13
Haruna et al 2007
C934T
Missense
PIP2 binding
450
(bordeline)
none
  Donaldson et al. 2003
1393-944del
Deletion
Dominant-negative; PIP2 binding; trafficking defect
471
Torsades, monomorphic VT
4
Tristani-Firouzi at al, 2002

VT = Ventricular Tachycardia; HR= heart rate; bpm = beats/min; QTc = heart rate corrected QT interval; N/A= not available; RBBB= right bundle branch block (precludes accurate measurement of QTc); PVC= premature ventricular contraction; VT= ventricular tachycardia; AV= atrioventricular.PES = Programmed Electrical Stimulation

(1) No dysmorphic features suggesting Andersen syndrome were present.

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