Paralogue Annotation for RYR2 residue 4534

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4534
Reference Amino Acid: P - Proline
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4534

No paralogue variants have been mapped to residue 4534 for RYR2.

RYR2	AFAINFILLFYKVSTSSVVEGKE------L>P<TRSSSENAK-VTSLDS-----SSHRIIAVH	4558
RYR1	AFAINFILLFYKVSDSPPGEDDMEGSAAGD>V<SGAGSGGSSGW-GLGAGEEAEGDEDENMVY	4630
RYR3	AFAINFILLFYKVTEEPLEEETE------D>V<ANLWN-------SFND-----EEEEEAMVF	4463
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P4534S	c.13600C>T	Putative Benign		rs199624074	SIFT: tolerated Polyphen: benign
p.P4534L	c.13601C>T	Putative Benign			SIFT: Polyphen: