Paralogue Annotation for RYR1 residue 124

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 124
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 124

No paralogue variants have been mapped to residue 124 for RYR1.

RYR1	GGGHRTLLYGHAILLRHAHSRMYLSCLTTS>R<SMTDKLAFDVGLQEDATGEACWWTMHPASK	154
RYR2	GGGHRTLLYGHAILLRHSYSGMYLCCLSTS>R<SSTDKLAFDVGLQEDTTGEACWWTIHPASK	167
RYR3	GGGHRTLLYGHAVLLRHSFSGMYLTCLTTS>R<SQTDKLAFDVGLREHATGEACWWTIHPASK	157
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R124C	c.370C>T	Putative Benign			SIFT: Polyphen: