Paralogue Annotation for RYR2 residue 4535

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4535
Reference Amino Acid: T - Threonine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4535

No paralogue variants have been mapped to residue 4535 for RYR2.

RYR2	FAINFILLFYKVSTSSVVEGKE------LP>T<RSSSENAK-VTSLDS-----SSHRIIAVHY	4559
RYR1	FAINFILLFYKVSDSPPGEDDMEGSAAGDV>S<GAGSGGSSGW-GLGAGEEAEGDEDENMVYY	4631
RYR3	FAINFILLFYKVTEEPLEEETE------DV>A<NLWN-------SFND-----EEEEEAMVFF	4464
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T4535M	c.13604C>T	Putative Benign			SIFT: Polyphen: