Paralogue Annotation for RYR1 residue 3494

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3494
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3494

No paralogue variants have been mapped to residue 3494 for RYR1.

RYR1	INNMSFLTADNKSKMAKAGDIQSGGSDQER>T<KKKRRGDRYSVQTSLIVATLKKMLPIGLNM	3524
RYR2	INNMSFLITDTKSKMSKAA-----VSDQER>K<KMKRKGDRYSMQTSLIVAALKRLLPIGLNI	3480
RYR3	INNLAFLTGDSKSKMSKAMQVKSGGQDQER>K<KTKRRGDLYSIQTSLIVAALKKMLPIGLNM	3381
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T3494S	c.10480A>T	Putative Benign			SIFT: Polyphen: