- 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


 

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