Paralogue Annotation for RYR2 residue 1465

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1465
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1465

No paralogue variants have been mapped to residue 1465 for RYR2.

RYR2	GQEPANVWVGWITSDFHQYDTGFDLDRVRT>V<TVTLGDEKGKVHESIKRSNCYMVCAGESMS	1495
RYR1	GQEPSCVWAGWVTPDYHQHDMSFDLSKVRV>V<TVTMGDEQGNVHSSLKCSNCYMVWGGDFVS	1501
RYR3	GQDPSCVWVGWVTPDYHLYSEKFDLNKNCT>V<TVTLGDERGRVHESVKRSNCYMVWGGDIVA	1397
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1465I	c.4393G>A	Putative Benign			SIFT: deleterious Polyphen: probably damaging