Paralogue Annotation for RYR2 residue 4255

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4255
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4255

No paralogue variants have been mapped to residue 4255 for RYR2.

RYR2	RPEEQGPRMAFFSILTVRSALFALRYNILT>L<MRMLSLKSLKKQMKKVKKMTVKDMVTAFFS	4285
RYR1	GAEEGAAGLEGTAATAAAGATARVVAAAGR>A<LRGLSYRSLRRRVRRLRRLTAREAATAVAA	4334
RYR3	IAGEEEEDGSLEPASAFAMACASVKRNVTD>F<LKRATLKNLRKQYRNVKKMTAKELVKVLFS	4186
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L4255F	c.12763C>T	Putative Benign			SIFT: Polyphen: