Paralogue Annotation for RYR2 residue 4258

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4258
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4258

No paralogue variants have been mapped to residue 4258 for RYR2.

RYR2	EQGPRMAFFSILTVRSALFALRYNILTLMR>M<LSLKSLKKQMKKVKKMTVKDMVTAFFSSYW	4288
RYR1	EGAAGLEGTAATAAAGATARVVAAAGRALR>G<LSYRSLRRRVRRLRRLTAREAATAVAALLW	4337
RYR3	EEEEDGSLEPASAFAMACASVKRNVTDFLK>R<ATLKNLRKQYRNVKKMTAKELVKVLFSFFW	4189
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M4258K	c.12773T>A	Unknown			SIFT: Polyphen:
Reports		Unknown		Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510