Paralogue Annotation for RYR2 residue 2372

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2372
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2372

No paralogue variants have been mapped to residue 2372 for RYR2.

RYR2	LLAAMEEAIKIAEDPSRDGPSPNS-GSSKT>L<DTEEEEDDTIHMGNAIMTFYSALIDLLGRC	2402
RYR1	LLAAIEEAIRISEDPARDGPGIRRDRRREH>F<GEEPPEENRVHLGHAIMSFYAALIDLLGRC	2436
RYR3	LLAAMQGAIKISENPALDLPSQGY-KREVS>T<GDDEEEEEIVHMGNAIMSFYSALIDLLGRC	2299
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L2372I	c.7114C>A	Putative Benign			SIFT: Polyphen:
p.L2372F	c.7114C>T	Putative Benign			SIFT: Polyphen: