Paralogue Annotation for RYR2 residue 273

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 273
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 273

No paralogue variants have been mapped to residue 273 for RYR2.

RYR2	ECLTVPSGEHGEEQRRTVHYEGGAVSVHAR>S<LWRLETLRVAWSGSHIRWGQPFRLRHVTTG	303
RYR1	ECLTISPAD-SDDQRRLVYYEGGAVCTHAR>S<LWRLEPLRISWSGSHLRWGQPLRVRHVTTG	287
RYR3	ECLTIPSTDQNDSQHRRIFYEAGGAGTRAR>S<LWRVEPLRISWSGSNIRWGQAFRLRHLTTG	292
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Ser273Phe	c.818C>T	Unknown			SIFT: Polyphen: