Paralogue Annotation for RYR1 residue 2064

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2064
Reference Amino Acid: M - Methionine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2064

No paralogue variants have been mapped to residue 2064 for RYR1.

RYR1	QDLLAHCGIQLDGEEEEP--EEETTLGSRL>M<SLLEKVRLVKKKEEKPEEERSAEESKPRSL	2094
RYR2	EDLMTHCGIELDEDG-SLDGNSDLTIRGRL>L<SLVEKVTYLKKKQA--EKPVESDSKKSSTL	2058
RYR3	EDLLLHCGVPLEEEE-EE--EEDTSWTGKL>C<ALVYKIKGPPKPEK--EQPTEEEERCPTTL	1956
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M2064R	c.6191T>G	Putative Benign		rs200388510	SIFT: Polyphen: benign
p.M2064I	c.6192G>C	Putative Benign		rs372066850	SIFT: tolerated Polyphen: benign
p.M2064T	c.6191T>C	Putative Benign			SIFT: Polyphen: