Paralogue Annotation for RYR2 residue 4251

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4251
Reference Amino Acid: N - Asparagine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4251

No paralogue variants have been mapped to residue 4251 for RYR2.

RYR2	---ERPEEQGPRMAFFSILTVRSALFALRY>N<ILTLMRMLSLKSLKKQMKKVKKMTVKDMVT	4281
RYR1	AGAEGAEEGAAGLEGTAATAAAGATARVVA>A<AGRALRGLSYRSLRRRVRRLRRLTAREAAT	4330
RYR3	YVLEIAGEEEEDGSLEPASAFAMACASVKR>N<VTDFLKRATLKNLRKQYRNVKKMTAKELVK	4182
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N4251D	c.12751A>G	Putative Benign			SIFT: Polyphen:
p.N4251S	c.12752A>G	Putative Benign			SIFT: Polyphen: