Paralogue Annotation for RYR2 residue 271

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 271
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 271

No paralogue variants have been mapped to residue 271 for RYR2.

RYR2	MDECLTVPSGEHGEEQRRTVHYEGGAVSVH>A<RSLWRLETLRVAWSGSHIRWGQPFRLRHVT	301
RYR1	MDECLTISPAD-SDDQRRLVYYEGGAVCTH>A<RSLWRLEPLRISWSGSHLRWGQPLRVRHVT	285
RYR3	-DECLTIPSTDQNDSQHRRIFYEAGGAGTR>A<RSLWRVEPLRISWSGSNIRWGQAFRLRHLT	290
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Ala271Val	c.812C>T	Unknown			SIFT: Polyphen: