hRyR2

CPVT Locus table - CPVT synopsis - ARVD2 synopsis - ARVD2 Locus Table


OMIM: 604772 - - 180902 - - Protein: NP_001026 - - CAA66975

AA numbering is based on Gene Bank cDNA: X98330

Variants in this table:155

 

Nucleotide
Change
Amino Acid Change
Mutation
Type
Protein
Domain *
Exon
Phenotype
References
1.1kb deletion Exon 3 deletion Deletion Amino Terminal
3
CPVT Bhuiyan et al 2007; Medeiros-Domingo et al. 2009
3.6kb deletion Exon 3 deletion Deletion Amino Terminal
3
CPVT Medeiros-Domingo et al. 2009
C184T L62F Missense Amino Terminal
3
CPVT Medeiros-Domingo et al. 2009
C230T A77V Missense Amino Terminal
3
CPVT d'Amati et al. 2005; Medeiros-Domingo et al. 2009
A241C M81L Missense Amino Terminal
3
CPVT Medeiros-Domingo et al. 2009
C493T P164S Missense Amino Terminal
8
CPVT Choi et al. 2004; Medeiros-Domingo et al. 2009
G506A R169Q Missense Amino Terminal
8
CPVT Hsueh et al. 2006; Medeiros-Domingo et al. 2009
C230T A77V Missense Cytoplasmatic loop
3
CPVT and ARVD D'Amati et al 2005
C490T P164S Missense Cytoplasmatic loop
8
SCD(1) Choi et al 2004; Tester et al 2006
G506A R169Q Missense Cytoplasmatic loop
8
CPVT Hsueh et al. 2006
G527A R176Q Missense Cytoplasmatic loop
8
ARVD / SUO(2) Tiso et al 2001; Tester 2005; Haugaa et al 2010
G556A V186M Missense Cytoplasmatic loop
8
CPVT Tester et al 2006
A567T E189D Missense Amino Terminal
8
CPVT Davis et al. 2006; Medeiros-Domingo et al. 2009; Jones et al. 2010
G727A E243K Missense Amino Terminal
10
CPVT Medeiros-Domingo et al. 2009
T985C F329L Missense Amino Terminal
12
CPVT Medeiros-Domingo et al. 2009
C994T R332W Missense Amino Terminal
12
CPVT Medeiros-Domingo et al. 2009
G1129A V377M cSNP Amino Terminal
13
CPVT Medeiros-Domingo et al. 2009
G1072A G357S Missense Amino Terminal
13
CPVT Medeiros-Domingo et al. 2009
C1240T R414C Missense Amino terminal
14
CPVT Tester 2005; Medeiros-Domingo et al. 2009
G1241T R414L Missense Cytoplasmatic loop
14
SCD (1) / SUO(2) Choi et al 2004 ; Tester 2005
C1244G T415R Missense Amino Terminal
14
CPVT Medeiros-Domingo et al. 2009
- R414C Missense Cytoplasmatic loop
14
E-IVF Creigthon et al 2006
A1255T I419F Missense Cytoplasmatic loop
14
SCD (1)/ SUO(2) Choi et al 2004; Tester 2005
C1258T R420W Missense Cytoplasmatic loop
14
ARVD
Bauce et al. 2002; Tester et al 2004; Nishio et al 2006
G1259A R420Q Missense Amino Terminal
14
CPVT Medeiros-Domingo et al. 2009
T1298C L433P Missense Cytoplasmatic loop
15
ARVD Tiso et al 2001
C1396G P466A Missense Cytoplasmatic loop
15
SUO(2) Tester 2005(2)
G1519A V507I cSNP Amino Terminal
16
CPVT Medeiros-Domingo et al. 2009
C1646T A549V Missense Amino Terminal
17
CPVT Medeiros-Domingo et al. 2009
- S616L Missense Cytoplasmic loop
19
CPVT Marjamaa et al 2009; Medeiros-Domingo et al. 2009
G2216A R739H Missense Cytoplasmic loop
21
CPVT Medeiros-Domingo et al. 2009
G3038A R1013Q Missense Cytoplasmic loop
26
CPVT Medeiros-Domingo et al. 2009
- R1051P Missense Cytoplasmic loop
27
CPVT Marjamaa et al 2009; Medeiros-Domingo et al. 2009
C3407T A1136V cSNP Cytoplasmic loop
28
CPVT Medeiros-Domingo et al. 2009
C3320T T1107M Missense Cytoplasmic loop
28
CPVT Medeiros-Domingo et al. 2009
G5169A E1724K Missense Cytoplasmatic loop
37
CPVT Postma et al. 2005
G5170A E1724K Missense Cytoplasmic loop
37
CPVT Postma et al. 2005; Medeiros-Domingo et al. 2009
G5509A E1837K Missense Cytoplasmic loop
37
CPVT Medeiros-Domingo et al. 2009
G5654A G1885E cSNP Cytoplasmatic loop
37
ARVC(4) Milting et al 2006
G5656A G1886S cSNP Cytoplasmatic loop
37
ARVC(4) Milting et al 2006
- G2145R Missense Cytoplasmatic loop
IVF (age 41 years) Marjamaa et al. 2009
A6137G E2045G Missense Cytoplasmic loop
40
CPVT Medeiros-Domingo et al. 2009
G6337A V2113M Missense Cytoplasmic loop
41
CPVT Tester et al. Heart Rhythm 2009;6 Suppl 1: S137; Medeiros-Domingo et al. 2009
G6337A H240R Missense Amino Terminal
10
CPVT Tester et al. Heart Rhythm 2009;6 Suppl 1: S137; Medeiros-Domingo et al. 2009
- G2145R Missense Cytoplasmic loop
41
CPVT Marjamaa et al 2009; Medeiros-Domingo et al. 2009
A6467G Y2156C cSNP Cytoplasmic loop
42
CPVT Medeiros-Domingo et al. 2009
C6504G H2168Q Missense Cytoplasmic loop
42
CPVT Medeiros-Domingo et al. 2009
A6548T E2183V cSNP Cytoplasmic loop
42
CPVT Medeiros-Domingo et al. 2009
A6647T D2216V Missense Cytoplasmic loop
43
CPVT Medeiros-Domingo et al. 2009
C6737T S2246L Missense Cytoplasmatic loop
44
CPVT/IVF Priori et al. 2001; Tester et al 2004
C6740T S2246L Missense Cytoplasmic loop
44
CPVT Priori et al 2001; Medeiros-Domingo et al. 2009
C6761T A2254V Missebse Cytoplasmatic loop
44
CPVT Postma et al. 2005
G6800A R2267H Missense Cytoplasmic loop
45
CPVT Tester et al 2007; Medeiros-Domingo et al. 2009
G6886C E2296Q Missense FKBP binding dom
45
CPVT Medeiros-Domingo et al. 2009
G6916A V2306I Missense FKBP binding dom
45
CPVT Laitinen et al. 2003
T6919C F2307L Missense FKBP binding dom
45
CPVT Berge et al 2008; Medeiros-Domingo et al. 2009
G6933A E2311D Missense FKBP binding dom.
46
CPVT Priori et al. 2002
- V2321M Missense FKBP binding dom
46
CPVT Nishio et al 2008; Medeiros-Domingo et al. 2009
C6982T P2328S Missense FKBP binding dom.
46
CPVT Laitinen et al.2001
T6992C F2331S Missense FKBP binding dom.
46
SCD Creigthon et al. 2006
  G2337V Missense FKBP binding dom.
46
CPVT Haugaa et al 2010
G7076A R2359Q(5) Missense FKBP binding dom.
SCD+CPVT Aizawa et a 2006
A7157T N2386I Missense FKBP binding dom.
47
ARVD Tiso et al 2001
G7158A A2387T Missense FKBP binding dom.
47
SUO(2) Tester 2005(2)
G7158C A2387P Missense FKBP binding dom
47
CPVT Bagattin et al 2004
A7165C M2389L cSNP FKBP binding dom
47
CPVT Tester et al. Circulation 2005; 11; 516.; Medeiros-Domingo et al. 2009
A7175G Y2392C Missense FKBP binding dom.
47
ARVD Bauce et al. 2002
C7181G A2394G Missense FKBP binding dom.
47
CPVT Postma et al. 2005
G7202A R2401H Missense FKBP binding dom.
47
CPVT Aizawa et al 2005
G7272T R2401L Missense FKBP binding dom.
47
E-IVF Creigthon et al. 2006
G7207A A2403T Missense FKBP binding dom.
47
SCD (1)/SUO(2) Choi et al 2004; Tester 2005
C7210A R2404T Missense FKBP binding dom
47
CPVT Beckmann et al 2008; Medeiros-Domingo et al. 2009
G7422C R2474S Missense FKBP binding dom.
49
CPVT Priori et al. 2001;
A7258T R2420W Missense FKBP binding dom
48
CPVT Medeiros-Domingo et al. 2009
G7423T V2475F Missense FKBP binding dom.
49
CPVT Tester et al. 2005
- L2487I Missense FKBP binding dom
49
CPVT Tester 2005
C7511T T2504M Missense FKBP binding dom.
49
ARVD Tiso et al 2001
T7528C T2510A Missense FKBP binding dom
50
CPVT Tester et al. Heart Rhythm 2009;6 Suppl 1: S137
C7599G L2534V Missense FKBP binding dom.
50
CPVT Hasdemir et al. 2004
A8874G Q2958R cSNP Cytosol
61
ARVD Tiso et al 2001
- N3308S Missense Cytosol
69
  Marjamaa et al. 2009
- R3570W Missense Cytosol
IVF
Marjamaa et al. 2009
C11332T L3778F Missense Cytosol
83
CPVT Priori et al. 2002
G11399T C3800F Missense Cytosol
83
SUO(2) Tester 2005(2)
C11636C L3879P Missense Cytosol
86
CPVT Tester et al. Heart Rhythm 2009;6 Suppl 1: S137; Medeiros-Domingo et al. 2009
C11773G Q3925E Missense Cytosol
87
CPVT Tester et al. Heart Rhythm 2009;6 Suppl 1: S137; Medeiros-Domingo et al. 2009
C11814A S3938R Missense Cytosol
87
CPVT Tester et al 2006
G11836A G3946S Missense Cytosol
88
CPVT Priori et al. 2002
- G3946A Missense Cytosol
88
CPVT Davis et al. Heart Rhythm 2006; 3: P4-62.; Medeiros-Domingo et al. 2009
C11876T S3959L Missense Cytosol
88
CPVT Tester et al. Heart Rhythm 2006; 6 Suppl 1:S137.; Medeiros-Domingo et al. 2009
G11916T M3972I Missense Cytosol
89
CPVT Medeiros-Domingo et al. 2009
G11917C D3973H Missense Cytosol
89
CPVT Medeiros-Domingo et al. 2009
T11921A L3974Q Missense Cytosol
89
CPVT Medeiros-Domingo et al. 2009
A11989G K3997E Missense Cytosol
90
CPVT Medeiros-Domingo et al. 2009
- F4020L Missense Cytosol
90
CPVT Postma et al. 2005
A12226G E4076K Missense Cytosol
90
CPVT Postma et al. 2005
G12028A V4010M cSNP Cytosol
90
  Tester et al. Circulation 2005; 11; 516.; Medeiros-Domingo et al. 2009
A12290G N4097S Missense Cytosol
90
E-IVF Tester et al 2004
C12312G N4104K Missense TM Domain
90
CPVT Priori et al. 2001;
A12311T N4104I Missense TM Domain
90
CPVT Postma et al. 2005
- L4105F cSNP TM Domain
90
CPVT Hasdemir C et al. 2008
C12322A H4108N Missense TM Domain
90
CPVT Postma et al. 2005
- H4108Q Missense TM Domain
90
CPVT Postma et al. 2005
A12370G S4124G Missense Cytosol
90
CPVT Medeiros-Domingo et al. 2009
G12371C S4124T Missense TM Domain
90
SUO(2) Tester 2005(2)
- R4144C Missense Cytosol
90
CPVT Berge et al 2008; Medeiros-Domingo et al. 2009
G12436A E4146K Missense TM Domain
90
E-IVF Tester et al 2004
A12446G Y4149s Missense Cytosol
90
CPVT Medeiros-Domingo et al. 2009
G12470A R4157Q Missense Cytosol
90
CPVT Medeiros-Domingo et al. 2009
A12472C T4158P Missense TM Domain
90
E-IVF Tester et al 2004
A12476G Q4159P Missense Cytosol
90
CPVT Medeiros-Domingo et al. 2009
A12533G N4178S Missense Cytosol
90
CPVT Medeiros-Domingo et al. 2009
G12559C E4187Q Missense Cytosol
90
CPVT Medeiros-Domingo et al. 2009
A12586G T4196A Missense TM Domain
90
N.A. Tester et al 2006
C12601A Q4201R Missense TM Domain
90
CPVT Laitinen et al.2001
C12845T A4282V cSNP Cytosol
90
CPVT Tester et al. Circulation 2005; 11; 516. Medeiros-Domingo et al. 2009
C12919T R4307C cSNP Cytosol
90
CPVT Callis et al. Heart Rhythm 2009;6 Suppl 1;S197.; Medeiros-Domingo et al. 2009
G12944A G4315E Missense Cytosol
90
CPVT Medeiros-Domingo et al. 2009
G13291A E4431K Missense Cytosol
91
CPVT Berge et al 2008; Medeiros-Domingo et al. 2009
C13489T R4497C Missense TM Domain
93
CPVT Priori et al. 2001; Tester et al 2004
T13496G F4499C Missense TM Domain
93
ND(3)/SUO(2) Choi et al 2004; Tester 2005
G13512A M4504I Missense TM Domain
93
CPVT Bagattin et al 2004
A13528G A4510T Missense TM Domain
93
CPVT/SUO(2) Laitinen et al.2001; Tester 2005(2)
- F4511L Missense TM Domain
93
CPVT Beckmann et al 2008
G13666A A4556T Missense TM Domain
94
SUO(2 Tester 2005(2)
C13695A S4565R Missense TM Domain
94
CPVT Tester et al 2007.; Medeiros-Domingo et al. 2009
G13957T V4653F Missense TM Domain
97
CPVT Laitinen et al.2001
G13819C A4607P Missense TM Domain
95
CPVT Bagattin et al 2004
G13831A E4611K Missense TM Domain
95
CPVT Berge et al 2008; Medeiros-Domingo et al. 2009
- W4645R Missense TM Domain
96
CPVT Beery et al 2009; Medeiros-Domingo et al. 2009
A13948G K4650E Missense TM Domain
96
CPVT Medeiros-Domingo et al. 2009
13967-13972DUP 4657-4658EYins EY Duplication TM Domain
97
SUO(2) Tester 2005(2)
- G4662S Missense TM Domain
97
CPVT Postma et al. 2005
G14010C G4671R Missense TM Domain
97
SUO(2)/ND(3) Tester 2005(2)
G14011C G4671R Missense TM Domain
97
CPVT Choi et al 2004
14205-14208 Del N4736 Del Deletion TM Domain
99
CPVT Medeiros-Domingo et al. 2009
A14285C H4762P Missense TM Domain
99
CPVT Postma et al. 2005
G14311A V4771I Missense TM Domain
100
CPVT Priori et al. 2002
G14369A R4790Q Missense TM Domain
100
CPVT Medeiros-Domingo et al. 2009
A14414G K4805R Missense TM Domain
100
CPVT Medeiros-Domingo et al. 2009
G14465A R4822H Missense TM Domain
101
CPVT Medeiros-Domingo et al. 2009
- G4671V Missense TM Domain
97
CPVT Haugaa et al 2010
A14542G I4848V Missense TM Domain
101
ND(3)/SUO(2) Choi et al 2004; Tester 2005(2)

T14552G

F4851C Missense TM Domain(5)
101
SCD+CPVT Aizawa et a 2006
C14579G A4860G Missense TM Domain
101
E-IVF Priori et al. 2002
T14601G I4867M Missense C-term
102
CPVT Priori et al. 2002
T14639C V4880A Missense C-term
102
CPVT Bagattin et al 2004
A14683G N4895D Missense C-term
103
CPVT Priori et al. 2002
C14705T P4902L Missense C-term
103
CPVT Laitinen et al. 2003
- P4902S Missense C-term
103
CPVT Postma et al. 2005
G14806A G4936R Missense C-term
104
CPVT Medeiros-Domingo et al. 2009; Johnson et al 2010
G14848A E4950K Missense C-term
105
CPVT Priori et al. 2002
G14876A R4959Q Missense C-term
105
CPVT Laitinen et al. 2003; Allouis et al 2005; Tester 2005(2)

-* RyR2 structure has only grossly known; thus, the localization of genetic defects relative to protein structure is subject to possible variations in the future.
- CPVT=Catecholaminergic Ventricular Tachycardia; ARVD=Arrhythmogenic Right Ventricular Dysplasia; E-IVF = Idiopathic Ventricular Fibrillation induced by emotion or exercise. TM = Transmembrane. NA =not available. cSNP = single nucleotide polymorphisms with a coding effect. Polymorphisms are in italics.
(1) SCD associated with drowning. (2)SUO = syncope of unknown origin; Clinical phenotype associated with this mutation has not been clearly outlined.(3) ND = near drowning and swimming-triggered syncope (4) Found in ARVC patients as compound heterozygosity with G1882S. (5) compound heterozygous mutation F4851C/ R2359Q (nor further details reported in the article)

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