Paralogue Annotation for RYR1 residue 64

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 64
Reference Amino Acid: C - Cysteine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 64

No paralogue variants have been mapped to residue 64 for RYR1.

RYR1	LCLAAEGFGNRLCFLEPTSNAQNVPPDLAI>C<CFVLEQSLSVRALQEMLANTVEAG--V---	89
RYR2	LCLAAEGFGNRLCFLESTSNSKNVPPDLSI>C<TFVLEQSLSVRALQEMLANTVEKSEGQVDV	95
RYR3	FCLAAEGLGNRLCFLEPTSEAKYIPPDLCV>C<NFVLEQSLSVRALQEMLANTGENG-GE---	92
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.C64R	c.190T>C	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population. Can J Anaesth. 2011 58(6):504-13. 21455645