Paralogue Annotation for RYR1 residue 4614

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4614
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4614

No paralogue variants have been mapped to residue 4614 for RYR1.

RYR1	DSPPGEDDMEGSAAGDVSGAGSGGSSGW-G>L<GAGEEAEGDEDENMVYYFLEESTGYMEPAL	4644
RYR2	TSSVVEGKE------LPTRSSSENAK-VTS>L<DS-----SSHRIIAVHYVLEESSGYMEPTL	4572
RYR3	EEPLEEETE------DVANLWN-------S>F<ND-----EEEEEAMVFFVLQESTGYMAPTL	4477
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L4614F	c.13842G>T	Putative Benign			SIFT: Polyphen: