Paralogue Annotation for RYR2 residue 1024

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1024
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1024

No paralogue variants have been mapped to residue 1024 for RYR2.

RYR2	AMVDKLAENAHNVWARDRIRQGWTYGIQQD>V<KNRRNPRLVPYTLLDDRTKKSNKDSLREAV	1054
RYR1	TLVDRLAENGHNVWARDRVGQGWSYSAVQD>I<PARRNPRLVPYRLLDEATKRSNRDSLCQAV	1042
RYR3	ILVDKLAENAHNVWAKDRIKQGWTYGIQQD>L<KNKRNPRLVPYALLDERTKKSNRDSLREAV	1041
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1024A	c.3071T>C	Putative Benign			SIFT: Polyphen:
p.V1024I	c.3070G>A	Unknown			SIFT: Polyphen: benign