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. 2022 Jul 26;12(8):1030. doi: 10.3390/biom12081030

Table 2.

RyR2 loss-of-function mutations.

Mutation Domain Disease References
Duplication 1 - CRDS [67]
L433P 2 NTD ARVD2 [22]
G570D NTD CRDS [79]
Q2275H BSolB CRDS [80]
Q3774L CSol CRDS [66]
Q3925E CSol CRDS [79]
I3995V CSol CRDS [66]
M4109R CSol CRDS [79]
D4112N CSol CRDS [66]
A4142T CSol CRDS [81]
E4146D CSol long QT syndrome [82]
E4146K CSol CRDS [83]
R4147K CSol CRDS [79]
S4168P CSol long QT syndrome [82]
T4196I CSol CRDS [66]
A4203V CSol CRDS [79]
A4204V CSol CRDS [79]
E4451del Unresolved CRDS [80]
F4499C TMD CRDS [80]
K4594Q TMD long QT syndrome [82]
V4606E TMD CRDS [80]
R4608Q TMD CRDS [80]
R4608W TMD CRDS [80]
D4646A TMD CRDS [66]
I4855M TMD left ventricular noncompaction [62]
A4860G 3 TMD CRDS [66,78]
Q4879H TMD CRDS [66]
G4935R TMD CRDS [83]
S4938F TMD torsade de pointes [59]

Notes: 1 Homozygous duplication of the promoter region and exons 1–4. 2 L433P has both GoF and LoF characteristics. 3 Idiopathic ventricular fibrillation that was reclassified as CRDS.