Paralogue Annotation for RYR1 residue 3243

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3243
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3243

No paralogue variants have been mapped to residue 3243 for RYR1.

RYR1	YNACSVYTTKSPRERAILGLPNSVEEMCPD>I<PVLERLMADIGGLAESGARYTEMPHVIEIT	3273
RYR2	HNIYSIYNTKSSRERAALSLPTNVEDVCPN>I<PSLEKLMEEIVELAESGIRYTQMPHVMEVI	3238
RYR3	YNPLSVFNTKTPRERSILGMPDTVEDMCPD>I<PQLEGLMKEINDLAESGARYTEMPHVIEVI	3134
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I3243V	c.9727A>G	Putative Benign			SIFT: tolerated Polyphen: benign