Paralogue Annotation for RYR2 residue 4502

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4502
Reference Amino Acid: M - Methionine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4502

No paralogue variants have been mapped to residue 4502 for RYR2.

RYR2	EPEVPESAFWKKIIAYQQKLLNYFARNFYN>M<RMLALFVAFAINFILLFYKVSTSSVVEGKE	4532
RYR1	KKEEAGGEFWGELEVQRVKFLNYLSRNFYT>L<RFLALFLAFAINFILLFYKVSDSPPGEDDM	4593
RYR3	KPEAFTANFFKGLEIYQTKLLHYLARNFYN>L<RFLALFVAFAINFILLFYKVTEEPLEEETE	4443
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Met4502Leu	c.13504A>C	Unknown			SIFT: Polyphen: