Paralogue Annotation for RYR1 residue 4647

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4647
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4647

No paralogue variants have been mapped to residue 4647 for RYR1.

RYR1	GEEAEGDEDENMVYYFLEESTGYMEPALRC>L<SLLHTLVAFLCIIGYNCLKVPLVIFKREKE	4677
RYR2	-----SSHRIIAVHYVLEESSGYMEPTLRI>L<AILHTVISFFCIIGYYCLKVPLVIFKREKE	4605
RYR3	-----EEEEEAMVFFVLQESTGYMAPTLRA>L<AIIHTIISLVCVVGYYCLKVPLVVFKREKE	4510
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L4647P	c.13940T>C	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease. Neuromuscul Disord. 2013 23(2):120-32. doi: 10.1016/j.nmd.2012.08.007. 23183335