Paralogue Annotation for RYR2 residue 1462

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1462
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1462

No paralogue variants have been mapped to residue 1462 for RYR2.

RYR2	IFPGQEPANVWVGWITSDFHQYDTGFDLDR>V<RTVTVTLGDEKGKVHESIKRSNCYMVCAGE	1492
RYR1	VFAGQEPSCVWAGWVTPDYHQHDMSFDLSK>V<RVVTVTMGDEQGNVHSSLKCSNCYMVWGGD	1498
RYR3	IFAGQDPSCVWVGWVTPDYHLYSEKFDLNK>N<CTVTVTLGDERGRVHESVKRSNCYMVWGGD	1394
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1462I	c.4384G>A	Putative Benign			SIFT: Polyphen: