Paralogue Annotation for RYR2 residue 3530

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3530
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3530

No paralogue variants have been mapped to residue 3530 for RYR2.

RYR2	TEDEVRDIIRSNIHLQGKLE-DPAIRWQMA>L<YKDLPNRTDDTSDPEKTVERVLDIANVLFH	3560
RYR1	TDEEVREFLHNNLHLQGKVEGSPSLRWQMA>L<YRGVPGREEDADDPEKIVRRV---------	3596
RYR3	TDEEVREHLRNNLHLQEKSD-DPAVKWQLN>L<YKDVLK-SEEPFNPEKTVERV---------	3451
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L3530I	c.10588C>A	Putative Benign			SIFT: deleterious Polyphen: benign