Paralogue Annotation for RYR1 residue 4616

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4616
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4616

No paralogue variants have been mapped to residue 4616 for RYR1.

RYR1	PPGEDDMEGSAAGDVSGAGSGGSSGW-GLG>A<GEEAEGDEDENMVYYFLEESTGYMEPALRC	4646
RYR2	SVVEGKE------LPTRSSSENAK-VTSLD>S<-----SSHRIIAVHYVLEESSGYMEPTLRI	4574
RYR3	PLEEETE------DVANLWN-------SFN>D<-----EEEEEAMVFFVLQESTGYMAPTLRA	4479
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A4616D	c.13847C>A	Putative Benign		rs59468283	SIFT: Polyphen:
p.A4616S	c.13846G>T	Putative Benign			SIFT: Polyphen:
p.A4616G	c.13847C>G	Putative Benign			SIFT: Polyphen: