Paralogue Annotation for RYR1 residue 4084

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4084
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4084

No paralogue variants have been mapped to residue 4084 for RYR1.

RYR1	VEMILKFFDMFLKLKDIVGSEAFQDYVTDP>R<GLISKKDFQKAMDSQKQFSGPEIQFLLSCS	4114
RYR2	VEMILKFFDMFLKLKDLTSSDTFKEYDPDG>K<GVISKRDFHKAMESHKHYTQSETEFLLSCA	4070
RYR3	VEMILKFFDMFLKLKDLTSSDTFKEYDPDG>K<GIISKKEFQKAMEGQKQYTQSEIDFLLSCA	3966
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R4084C	c.12250C>T	Putative Benign			SIFT: Polyphen:
p.R4084H	c.12251G>A	Putative Benign			SIFT: Polyphen: