Paralogue Annotation for RYR2 residue 246

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 246
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 246

No paralogue variants have been mapped to residue 246 for RYR2.

RYR2	PISSGSEAAQGYLIGGDVLRLLHGHMDECL>T<VPSGEHGEEQRRTVHYEGGAVSVHARSLWR	276
RYR1	PICSR--CEEGFVTGGHVLRLFHGHMDECL>T<ISPAD-SDDQRRLVYYEGGAVCTHARSLWR	260
RYR3	PTCSGSSIEEGYLLGGHVVRLFHGH-DECL>T<IPSTDQNDSQHRRIFYEAGGAGTRARSLWR	265
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T246I	c.737C>T	Putative Benign			SIFT: Polyphen: