Paralogue Annotation for RYR2 residue 2258

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2258
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2258

No paralogue variants have been mapped to residue 2258 for RYR2.

RYR2	GLASPAMRGSTPLDVAAASVMDNNELALAL>R<EPDLEKVVRYLAGCGLQSCQMLVSKGYPDI	2288
RYR1	G--L-GMQGSTPLDVAAASVIDNNELALAL>Q<EQDLEKVVSYLAGCGLQSCPMLVAKGYPDI	2321
RYR3	GLASPSMRGSTPLDVAASSVMDNNELALSL>E<EPDLEKVVTYLAGCGLQSCPMLLAKGYPDV	2185
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2258C	c.6772C>T	Putative Benign			SIFT: Polyphen: