Paralogue Annotation for RYR2 residue 1848

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1848
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1848

No paralogue variants have been mapped to residue 1848 for RYR2.

RYR2	FVPLIKLFYTLLIMGIFHNEDLKHILQLIE>P<SVFKEAATPEEESDTL--E-K---ELS---	1869
RYR1	FVPVLKLVSTLLVMGIFGDEDVKQILKMIE>P<EVFTEEEEEEDEEEEGEEEDEEEKEEDEEE	1898
RYR3	FVPVLKLIGTLLVMGVFDDDDVRQILLLID>P<SVFGEHSAGTEEGAEK--E-E---VTQ---	1773
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P1848S	c.5542C>T	Putative Benign			SIFT: Polyphen:
p.Pro1848Leu	c.5543C>T	Unknown			SIFT: Polyphen: