Paralogue Annotation for RYR2 residue 3208

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3208
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3208

No paralogue variants have been mapped to residue 3208 for RYR2.

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

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I3208V	c.9622A>G	Putative Benign			SIFT: Polyphen: