Paralogue Annotation for RYR1 residue 3493

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3493
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3493

No paralogue variants have been mapped to residue 3493 for RYR1.

RYR1	EINNMSFLTADNKSKMAKAGDIQSGGSDQE>R<TKKKRRGDRYSVQTSLIVATLKKMLPIGLN	3523
RYR2	EINNMSFLITDTKSKMSKAA-----VSDQE>R<KKMKRKGDRYSMQTSLIVAALKRLLPIGLN	3479
RYR3	EINNLAFLTGDSKSKMSKAMQVKSGGQDQE>R<KKTKRRGDLYSIQTSLIVAALKKMLPIGLN	3380
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R3493C	c.10477C>T	Putative Benign			SIFT: Polyphen:
p.R3493H	c.10478G>A	Putative Benign			SIFT: Polyphen: