Paralogue Annotation for RYR1 residue 3489

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3489
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3489

No paralogue variants have been mapped to residue 3489 for RYR1.

RYR1	VVQNEINNMSFLTADNKSKMAKAGDIQSGG>S<DQERTKKKRRGDRYSVQTSLIVATLKKMLP	3519
RYR2	VVQNEINNMSFLITDTKSKMSKAA-----V>S<DQERKKMKRKGDRYSMQTSLIVAALKRLLP	3475
RYR3	VIQNEINNLAFLTGDSKSKMSKAMQVKSGG>Q<DQERKKTKRRGDLYSIQTSLIVAALKKMLP	3376
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S3489A	c.10465T>G	Putative Benign			SIFT: Polyphen:
p.S3489L	c.10466C>T	Putative Benign			SIFT: Polyphen: