Paralogue Annotation for RYR1 residue 4088

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4088
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4088

No paralogue variants have been mapped to residue 4088 for RYR1.

RYR1	LKFFDMFLKLKDIVGSEAFQDYVTDPRGLI>S<KKDFQKAMDSQKQFSGPEIQFLLSCSEADE	4118
RYR2	LKFFDMFLKLKDLTSSDTFKEYDPDGKGVI>S<KRDFHKAMESHKHYTQSETEFLLSCAETDE	4074
RYR3	LKFFDMFLKLKDLTSSDTFKEYDPDGKGII>S<KKEFQKAMEGQKQYTQSEIDFLLSCAEADE	3970
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S4088P	c.12262T>C	Putative Benign			SIFT: Polyphen: