Table 3.
Functional assessment of HypoPP mutations in CaV1.1
DomainMutationMethodGating pore currentReferences
II R528H (R1) Oocyte, knock-in mouse fiber, human fiber Yes Wu et al., 2018; Wu et al., 2012; Jurkat-Rott et al., 2009  
 R528G (R1) Oocyte Yes Wu et al., 2018  
 R528C (R1) Not done  
III V876E (S3) Mouse fiber (electroporation) Yes Fuster et al., 2017b  
 R897K (R1) Oocyte No Kubota et al., 2020  
 R897S (R1) Oocyte Yes This study 
 R900G (R2) Oocyte Yes This study 
 R900S (R2) Oocyte No This study 
IV R1239H (R2) Mouse fiber (electroporation), human fiber Yes Fuster et al., 2017a; Jurkat-Rott et al., 2009  
 R1239G (R2) Not done  
DomainMutationMethodGating pore currentReferences
II R528H (R1) Oocyte, knock-in mouse fiber, human fiber Yes Wu et al., 2018; Wu et al., 2012; Jurkat-Rott et al., 2009  
 R528G (R1) Oocyte Yes Wu et al., 2018  
 R528C (R1) Not done  
III V876E (S3) Mouse fiber (electroporation) Yes Fuster et al., 2017b  
 R897K (R1) Oocyte No Kubota et al., 2020  
 R897S (R1) Oocyte Yes This study 
 R900G (R2) Oocyte Yes This study 
 R900S (R2) Oocyte No This study 
IV R1239H (R2) Mouse fiber (electroporation), human fiber Yes Fuster et al., 2017a; Jurkat-Rott et al., 2009  
 R1239G (R2) Not done  

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