Paralogue Annotation for RYR1 residue 3326

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3326
Reference Amino Acid: N - Asparagine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3326

No paralogue variants have been mapped to residue 3326 for RYR1.

RYR1	LPAGAPPPCTAVTSDHLNSLLGNILRIIVN>N<LGIDEASWMKRLAVFAQPIVSRARPELLQS	3356
RYR2	---RAEMCCTALNSEHMNTLLGNILKIIYN>N<LGIDEGAWMKRLAVFSQPIINKVKPQLLKT	3317
RYR3	---STGPCCTKVTSEHLSLILGNILKIINN>N<LGIDEASWMKRIAVYAQPIISKARPDLLRS	3213
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N3326K	c.9978C>A	Other Myopathy		rs367543057	SIFT: Polyphen:
Reports		Other Myopathy		Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Hum Mutat. 2010 31(7):E1544-50. 20583297
		Unknown		20301436