Dilated cardiomyopathy caused by a pathogenic nucleotide variant in RBM20 in an Iranian family

BMC Medical Genomics

Table 1 All reported pathogenic nucleotide variations in the RS-region domain of RBM20

Mutation	Type	Country	References
R634Q R636S R636H S637G P638L	Hetero	USA	[30]
R634Q R634W R636C R636H	Hetero	USA	[39]
S637G	Hetero	Germany	[42]
R636C	Hetero	USA	[53]
P638L R634W R636C R634Q R636H	Hetero	USA	[40]
S635A	Hetero	Germany	[26]
R636H	Hetero	USA	[43]
R636H	Hetero	Canada	[41]
R636H	Hetero	Finland	[44]
R634Q R634W S635A R636S R636H R636C S637G P638L	Hetero	Germany	[49]
R634W	Hetero	Tokyo	[33]
R636H	Hetero	Spain	[45]
R636H R634Q R636S P638L	Hetero	Denmark	[46]
R634Q R636S R636H	Hetero	Denmark	[47]
R636H	Hetero	China	[50]
P638L	Hetero	Germany	[36]
R636H	Hetero	Vietnam	[48]
R634Q R634W	Hetero	Greece	[54]

ISSN: 1755-8794