Paralogue Annotation for RYR2 residue 2262

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2262
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2262

No paralogue variants have been mapped to residue 2262 for RYR2.

RYR2	PAMRGSTPLDVAAASVMDNNELALALREPD>L<EKVVRYLAGCGLQSCQMLVSKGYPDIGWNP	2292
RYR1	-GMQGSTPLDVAAASVIDNNELALALQEQD>L<EKVVSYLAGCGLQSCPMLVAKGYPDIGWNP	2325
RYR3	PSMRGSTPLDVAASSVMDNNELALSLEEPD>L<EKVVTYLAGCGLQSCPMLLAKGYPDVGWNP	2189
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L2262V	c.6784C>G	Putative Benign			SIFT: Polyphen: