Paralogue Annotation for RYR1 residue 4063

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4063
Reference Amino Acid: M - Methionine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4063

No paralogue variants have been mapped to residue 4063 for RYR1.

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

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M4063V	c.12187A>G	Putative Benign		rs181968345	SIFT: Polyphen: benign
p.M4063T	c.12188T>C	Putative Benign			SIFT: Polyphen: