Paralogue Annotation for RYR1 residue 209

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 209
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 209

No paralogue variants have been mapped to residue 209 for RYR1.

RYR1	LSTASGELQVDASFMQTLWNMNPICSR--C>E<EGFVTGGHVLRLFHGHMDECLTISPAD-SD	238
RYR2	LSYGNGSLHVDAAFQQTLWSVAPISSGSEA>A<QGYLIGGDVLRLLHGHMDECLTVPSGEHGE	254
RYR3	LSVSNGNIQVDASFMQTLWNVHPTCSGSSI>E<EGYLLGGHVVRLFHGH-DECLTIPSTDQND	243
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E209K	c.625G>A	Putative Benign			SIFT: Polyphen: