Paralogue Annotation for RYR2 residue 2078

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2078
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2078

No paralogue variants have been mapped to residue 2078 for RYR2.

RYR2	VESDSKKSSTLQQLISETMVRWAQESVIED>P<ELVRAMFVLLHRQYDGIGGLVRALPKTYTI	2108
RYR1	RSAEESKPRSLQELVSHMVVRWAQEDFVQS>P<ELVRAMFSLLHRQYDGLGELLRALPRAYTI	2144
RYR3	TEEEERCPTTLKELISQTMICWAQEDQIQD>S<ELVRMMFNLLRRQYDSIGELLQALRKTYTI	2006
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P2078S	c.6232C>T	Putative Benign			SIFT: Polyphen: