Paralogue Annotation for RYR2 residue 4026

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4026
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4026

No paralogue variants have been mapped to residue 4026 for RYR2.

RYR2	GKQMVDMLVESSNNVEMILKFFDMFLKLKD>L<TSSDTFKEYDPDGKGVISKRDFHKAMESHK	4056
RYR1	ARQMVDMLVESSSNVEMILKFFDMFLKLKD>I<VGSEAFQDYVTDPRGLISKKDFQKAMDSQK	4100
RYR3	GKQMVDTLVESSTNVEMILKFFDMFLKLKD>L<TSSDTFKEYDPDGKGIISKKEFQKAMEGQK	3952
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L4026V	c.12076T>G	Putative Benign			SIFT: Polyphen:
p.L4026W	c.12077T>G	Putative Benign			SIFT: Polyphen: