Paralogue Annotation for RYR2 residue 2990

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2990
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2990

No paralogue variants have been mapped to residue 2990 for RYR2.

RYR2	IKFFAKVVLPLIDQYFKNHRLYFLSAASRP>L<CSGGHASNKEKEMVTSLFCKLGVLVRHRIS	3020
RYR1	IKFFAKILLPLINQYFTNHCLYFLSTPAKV>L<GSGGHASNKEKEMITSLFCKLAALVRHRVS	3055
RYR3	IKFFAKVLLPLVDQYFTSHCLYFLSSPLKP>L<SSSGYASHKEKEMVAGLFCKLAALVRHRIS	2916
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L2990F	c.8968C>T	Putative Benign			SIFT: Polyphen: