Paralogue Annotation for RYR2 residue 2253

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2253
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2253

No paralogue variants have been mapped to residue 2253 for RYR2.

RYR2	ENSSVGLASPAMRGSTPLDVAAASVMDNNE>L<ALALREPDLEKVVRYLAGCGLQSCQMLVSK	2283
RYR1	ENSGIG--L-GMQGSTPLDVAAASVIDNNE>L<ALALQEQDLEKVVSYLAGCGLQSCPMLVAK	2316
RYR3	ENSSVGLASPSMRGSTPLDVAASSVMDNNE>L<ALSLEEPDLEKVVTYLAGCGLQSCPMLLAK	2180
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Leu2253Val	c.6757C>G	Unknown			SIFT: Polyphen: