Paralogue Annotation for RYR1 residue 4643

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4643
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4643

No paralogue variants have been mapped to residue 4643 for RYR1.

RYR1	GLGAGEEAEGDEDENMVYYFLEESTGYMEP>A<LRCLSLLHTLVAFLCIIGYNCLKVPLVIFK	4673
RYR2	SLDS-----SSHRIIAVHYVLEESSGYMEP>T<LRILAILHTVISFFCIIGYYCLKVPLVIFK	4601
RYR3	SFND-----EEEEEAMVFFVLQESTGYMAP>T<LRALAIIHTIISLVCVVGYYCLKVPLVVFK	4506
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A4643T	c.13927G>A	Putative Benign		rs200286252	SIFT: Polyphen:
p.A4643P	c.13927G>C	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Diagnosis and etiology of congenital muscular dystrophy: We are halfway there. Ann Neurol. 2016 80(1):101-11. doi: 10.1002/ana.24687. 27159402