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Last update

21/6/2017

Gene: ryanodine receptor 2 (cardiac); RYR2

Gene Symbol: RYR2
OMIM: 180902
Chromosome location: 1q43

Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD

Ventricular tachycardia, catecholaminergic polymorphic, 1 || c.1069G>A

Phenotype:	Ventricular tachycardia, catecholaminergic polymorphic, 1
Dna Change:	c.1069G>A
Protein Change:	p.Gly357Ser
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 13
Transcript:	NM_001035.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	NA	NA	large family	NA	Wangüemert F et al., 2015Wangüemert F, Bosch Calero C, Pérez C, Campuzano O, Beltran-Alvarez P, Scornik FS, Iglesias A, Berne P, Allegue C, Ruiz Hernandez PM, Brugada J, Pérez GJ, Brugada R, . Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia.. Heart Rhythm. 2015; 12(7):1636-43

References

Wangüemert F, Bosch Calero C, Pérez C, Campuzano O, Beltran-Alvarez P, Scornik FS, Iglesias A, Berne P, Allegue C, Ruiz Hernandez PM, Brugada J, Pérez GJ, Brugada R, Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia.Heart Rhythm. 2015; 12(7):1636-43

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: ryanodine receptor 2 (cardiac); RYR2

References