Paralogue Annotation for RYR2 residue 4539

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4539
Reference Amino Acid: S - Serine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4539

No paralogue variants have been mapped to residue 4539 for RYR2.

RYR2	FILLFYKVSTSSVVEGKE------LPTRSS>S<ENAK-VTSLDS-----SSHRIIAVHYVLEE	4563
RYR1	FILLFYKVSDSPPGEDDMEGSAAGDVSGAG>S<GGSSGW-GLGAGEEAEGDEDENMVYYFLEE	4635
RYR3	FILLFYKVTEEPLEEETE------DVANLW>N<-------SFND-----EEEEEAMVFFVLQE	4468
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S4539R	c.13615A>C	Putative Benign			SIFT: Polyphen: