Paralogue Annotation for RYR1 residue 4073

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4073
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4073

No paralogue variants have been mapped to residue 4073 for RYR1.

RYR1	MVDMLVESSSNVEMILKFFDMFLKLKDIVG>S<EAFQDYVTDPRGLISKKDFQKAMDSQKQFS	4103
RYR2	MVDMLVESSNNVEMILKFFDMFLKLKDLTS>S<DTFKEYDPDGKGVISKRDFHKAMESHKHYT	4059
RYR3	MVDTLVESSTNVEMILKFFDMFLKLKDLTS>S<DTFKEYDPDGKGIISKKEFQKAMEGQKQYT	3955
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S4073F	c.12218C>T	Putative Benign			SIFT: Polyphen: