Paralogue Annotation for RYR2 residue 1857

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1857
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1857

No paralogue variants have been mapped to residue 1857 for RYR2.

RYR2	TLLIMGIFHNEDLKHILQLIEPSVFKEAAT>P<EEESDTL--E-K---ELS----VDDAK-LQ	1876
RYR1	TLLVMGIFGDEDVKQILKMIEPEVFTEEEE>E<EDEEEEGEEEDEEEKEEDEEETAQEKEDEE	1907
RYR3	TLLVMGVFDDDDVRQILLLIDPSVFGEHSA>G<TEEGAEK--E-E---VTQ----VEEKA-VE	1780
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P1857L	c.5570C>T	Putative Benign			SIFT: tolerated Polyphen: benign