Paralogue Annotation for RYR2 residue 4019

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4019
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4019

No paralogue variants have been mapped to residue 4019 for RYR2.

RYR2	NVVNGTIGKQMVDMLVESSNNVEMILKFFD>M<FLKLKDLTSSDTFKEYDPDGKGVISKRDFH	4049
RYR1	NVVNGMIARQMVDMLVESSSNVEMILKFFD>M<FLKLKDIVGSEAFQDYVTDPRGLISKKDFQ	4093
RYR3	NVVNGTIGKQMVDTLVESSTNVEMILKFFD>M<FLKLKDLTSSDTFKEYDPDGKGIISKKEFQ	3945
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M4019I	c.12057G>A	Putative Benign			SIFT: Polyphen:
p.Met4019Thr	c.12056T>C	Unknown			SIFT: Polyphen: