Paralogue Annotation for RYR1 residue 3270

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3270
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3270

No paralogue variants have been mapped to residue 3270 for RYR1.

RYR1	CPDIPVLERLMADIGGLAESGARYTEMPHV>I<EITLPMLCSYLPRWWERGPEAPPSALPAGA	3300
RYR2	CPNIPSLEKLMEEIVELAESGIRYTQMPHV>M<EVILPMLCSYMSRWWEHGPENNPE----RA	3261
RYR3	CPDIPQLEGLMKEINDLAESGARYTEMPHV>I<EVILPMLCNYLSYWWERGPENLPP----ST	3157
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I3270F	c.9808A>T	Putative Benign			SIFT: Polyphen: