ARVD9

- Plakophilin -
- ARVD9-

PKP2

Gene: 5318;
OMIM: 602861; Unigene:Hs.164384 ; Map viewer: 12p11

Nucleotide Change	Coding Effect	Mutation Type	Region	Phenotype	Reference
G76A	D26N	Missense	head	ARVD	Van Tintelen et al 2006
144_148delCAGA	S50fsX110	Deletion/Frameshift		ARVD	Syrris P et al 2006
145-148delCAGA	S50fs+60X	Deletion/Frameshift	head	ARVD	Gerull et al. 2004
148_151delACAG	T50_V51	Deletion/Frameshift	head	ARVD	Van Tintelen et al 2006
C184A	E62K	Missense	head	ARVD	Van Tintelen et al 2006
216insC	Q74fs+11X	Frameshift	head	ARVD	Gerull et al. 2004
C235T	R79X	Nonsense	head	ARVD	Gerull et al. 2004
T258G	Q86X	Nonesense	head	ARVD	Van Tintelen et al 2006
C397T	Q133X	Nonsense	head	ARVD	Van Tintelen et al 2006
C419T	S140F	Missense		ARVD	Syrris P et al 2006
C419T	S140I	Missense	head	ARVD	Gerull et al. 2004
534-535insCT	C179fs190X	Insertion/Frameshift	head	ARVD	Gerull et al. 2004
1171-2 a>g	-	Splise error		ARVD	Dalal et al. 2006
1211-1212InsT	V406fs+3X	Insertion/Frameshift	head	ARVD	Van Tintelen et al 2006
T1271C	F424S	Missense		ARVD	Dalal et al. 2006
C1237T	R413X	Nonsense	Arm repeat 2	ARVD	Syrris P et al 2006
1368delA	N456fs+2X	Deletion/Frameshift		ARVD	Dalal et al. 2006
1369-1372delCAAA	Q457X	Nonsense	ARM	ARVD	Gerull et al. 2004
1597_1600delATCC	P533fsX561	Deletion/Frameshift	Arm repeat 4	ARVD	Syrris P et al 2006
G1613A	W538X	Nonesense		ARVD	Dalal et al. 2006
1631-1632insTT	L511fs+51X	Insertion/Frameshift		ARVD	Gerull et al. 2004
1642delG	V548fx562	Deletion/Frameshift		ARVD	Gerull et al. 2004
1709delC	V570fsX576	Deletion/Frameshift	Arm repeat 5	ARVD	Syrris P et al 2006
1728-1729insGATG	R577fs+5X	Insertion/Frameshift	ARM	ARVD	Nagaoka et al. 2006
1755_1756insTTGACTCA	L586fsX658	Insertion/Frameshift	Arm repeat 5	ARVD	Syrris P et al 2006
C1844T	S615F	Missense	Arm repeat 6	ARVD	Gerull et al. 2004; Syrris P et al 2006
C1848A	Y616X	Nonsense		ARVD	Van Tintelen et al 2006
C1912T	Q638X	Nonesense		ARVD	Gerull et al. 2004
1948delA	V650fs+5X	Deletion/Frameshift	ARM	ARVD	Gerull et al. 2004
C1951T	R651X	Nonsense	ARM	ARVD	Gerull et al. 2004
A1960C	K654Q	Missense	ARM	ARVD	Gerull et al. 2004
2011delC	P671FS+12X	Nonsense		ARVD	Dalal et al. 2006
G2028A	W676X	Nonsense	ARM	ARVD	Van Tintelen et al 2006
T2062C	S699P	Missense		ARVD	Van Tintelen et al 2006
2076_20//delAA	C693fs+48X	Deletion/Frameshift	ARM	ARVD	Gerull et al. 2004
2088insA	K696fs+46X	Insertion/Frameshift	ARM	ARVD	Gerull et al. 2004
C2095T	Q699X	Nonsense	Arm repeat 8	ARVD	Gerull et al. 2004
2146-1g>c	-	splice error	Arm repeat 8	ARVD	Gerull et al. 2004; Syrris P et al 2006
C2176T	Q726X	Nonsense	Arm repeat 8	ARVD	Gerull et al. 2004
2197-2202insGdelCACACC	A733Fs+7X	Insertion/Frameshift	Arm repeat 8	ARVD	Dalal et al. 2006; Syrris P et al 2006
C2203T	R735X	Nonsense	Arm repeat 8	ARVD	Gerull et al. 2004
2196del28	740X	Frameshift		ARVD	Kannankeril et al 2006

T2386C	C796R	Missense		ARVD	Gerull et al. 2004
2393_2401delCATTGAACA	N798fs+81X	Deletion/Frameshift		ARVD	Gerull et al. 2004
C2421A	Y807X	Nonsense		ARVD	Van Tintelen et al 2006
2489+1g>a	-	splice error		ARVD	Gerull et al. 2004
2490-1g>c	-	splice error		ARVD	Gerull et al. 2004
2509delA	-V837fs+93X	Deletion/Frameshift		ARVD	Gerull et al. 2004
G2544A	W848X	Nonsense		ARVD	Van Tintelen et al 2006

ARM = armadillo repeat