Paralogue Annotation for RYR2 residue 2055

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2055
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2055

No paralogue variants have been mapped to residue 2055 for RYR2.

RYR2	GRLLSLVEKVTYLKKKQA--EKPVESDSKK>S<STLQQLISETMVRWAQESVIEDPELVRAMF	2085
RYR1	SRLMSLLEKVRLVKKKEEKPEEERSAEESK>P<RSLQELVSHMVVRWAQEDFVQSPELVRAMF	2121
RYR3	GKLCALVYKIKGPPKPEK--EQPTEEEERC>P<TTLKELISQTMICWAQEDQIQDSELVRMMF	1983
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S2055P	c.6163T>C	Putative Benign			SIFT: Polyphen: