Paralogue Annotation for RYR2 residue 2260

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2260
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2260

No paralogue variants have been mapped to residue 2260 for RYR2.

RYR2	ASPAMRGSTPLDVAAASVMDNNELALALRE>P<DLEKVVRYLAGCGLQSCQMLVSKGYPDIGW	2290
RYR1	-L-GMQGSTPLDVAAASVIDNNELALALQE>Q<DLEKVVSYLAGCGLQSCPMLVAKGYPDIGW	2323
RYR3	ASPSMRGSTPLDVAASSVMDNNELALSLEE>P<DLEKVVTYLAGCGLQSCPMLLAKGYPDVGW	2187
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P2260L	c.6779C>T	Putative Benign			SIFT: Polyphen: