Paralogue Annotation for RYR1 residue 3407

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3407
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3407

No paralogue variants have been mapped to residue 3407 for RYR1.

RYR1	EQLRLEAKAEAQEGELLVRDEFSVLCRDLY>A<LYPLLIRYVDNNRAQWLTEPNPSAEELFRM	3437
RYR2	DHLKAEARGDMSEAELLILDEFTTLARDLY>A<FYPLLIRFVDYNRAKWLKEPNPEAEELFRM	3398
RYR3	EQLKADGKGDTQEAELLILDEFAVLCRDLY>A<FYPMLIRYVDNNRSNWLKSPDADSDQLFRM	3294
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A3407T	c.10219G>A	Other Disease Phenotype		rs143533100	SIFT: Polyphen: benign
Reports		Other Disease Phenotype		RYR1-related myopathies: a wide spectrum of phenotypes throughout life. Eur J Neurol. 2015 22(7):1094-112. doi: 10.1111/ene.12713. 25960145
p.A3407S	c.10219G>T	Other Disease Phenotype			SIFT: Polyphen:
Reports		Other Disease Phenotype		Fever-induced recurrent rhabdomyolysis due to a novel mutation in the ryanodine receptor type 1 gene. Intern Med J. 2014 44(8):819-20. doi: 10.1111/imj.12498. 25081049