Paralogue Annotation for RYR1 residue 4635

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4635
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4635

No paralogue variants have been mapped to residue 4635 for RYR1.

RYR1	SGGSSGW-GLGAGEEAEGDEDENMVYYFLE>E<STGYMEPALRCLSLLHTLVAFLCIIGYNCL	4665
RYR2	SENAK-VTSLDS-----SSHRIIAVHYVLE>E<SSGYMEPTLRILAILHTVISFFCIIGYYCL	4593
RYR3	N-------SFND-----EEEEEAMVFFVLQ>E<STGYMAPTLRALAIIHTIISLVCVVGYYCL	4498
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4635Q	c.13903G>C	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat. 2012 33(6):981-8. doi: 10.1002/humu.22056. 22473935