Paralogue Annotation for RYR1 residue 1578

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1578
Reference Amino Acid: M - Methionine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1578

No paralogue variants have been mapped to residue 1578 for RYR1.

RYR1	FPAVFVLPTHQNVIQFELGKQKNIMPLSAA>M<FQSERKNPAPQCPPRLEMQMLMPVSWSRMP	1608
RYR2	FPAVFAQATSPNVFQFELGRIKNVMPLSAG>L<FKSEHKNPVPQCPPRLHVQFLSHVLWSRMP	1600
RYR3	FPAVFLQPTSTSLFQFELGKLKNAMPLSAA>I<FRSEEKNPVPQCPPRLDVQTIQPVLWSRMP	1504
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M1578V	c.4732A>G	Putative Benign			SIFT: tolerated Polyphen: benign
p.M1578I	c.4734G>A	Putative Benign			SIFT: Polyphen: