Paralogue Annotation for RYR2 residue 4257

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4257
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4257

No paralogue variants have been mapped to residue 4257 for RYR2.

RYR2	EEQGPRMAFFSILTVRSALFALRYNILTLM>R<MLSLKSLKKQMKKVKKMTVKDMVTAFFSSY	4287
RYR1	EEGAAGLEGTAATAAAGATARVVAAAGRAL>R<GLSYRSLRRRVRRLRRLTAREAATAVAALL	4336
RYR3	GEEEEDGSLEPASAFAMACASVKRNVTDFL>K<RATLKNLRKQYRNVKKMTAKELVKVLFSFF	4188
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R4257Q	c.12770G>A	Putative Benign		rs371396204	SIFT: tolerated Polyphen: benign