Paralogue Annotation for RYR2 residue 272

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 272
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 272

No paralogue variants have been mapped to residue 272 for RYR2.

RYR2	DECLTVPSGEHGEEQRRTVHYEGGAVSVHA>R<SLWRLETLRVAWSGSHIRWGQPFRLRHVTT	302
RYR1	DECLTISPAD-SDDQRRLVYYEGGAVCTHA>R<SLWRLEPLRISWSGSHLRWGQPLRVRHVTT	286
RYR3	DECLTIPSTDQNDSQHRRIFYEAGGAGTRA>R<SLWRVEPLRISWSGSNIRWGQAFRLRHLTT	291
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R272L	c.815G>T	Putative Benign		rs377368967	SIFT: deleterious Polyphen: probably damaging
p.R272C	c.814C>T	Putative Benign			SIFT: Polyphen: