Paralogue Annotation for RYR1 residue 3273

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3273
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3273

No paralogue variants have been mapped to residue 3273 for RYR1.

RYR1	IPVLERLMADIGGLAESGARYTEMPHVIEI>T<LPMLCSYLPRWWERGPEAPPSALPAGAPPP	3303
RYR2	IPSLEKLMEEIVELAESGIRYTQMPHVMEV>I<LPMLCSYMSRWWEHGPENNPE----RAEMC	3264
RYR3	IPQLEGLMKEINDLAESGARYTEMPHVIEV>I<LPMLCNYLSYWWERGPENLPP----STGPC	3160
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T3273M	c.9818C>T	Putative Benign		rs371744890	SIFT: tolerated Polyphen: benign