Paralogue Annotation for RYR2 residue 1006

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1006
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1006

No paralogue variants have been mapped to residue 1006 for RYR2.

RYR2	YKPAPMDLSFIKLTPSQEAMVDKLAENAHN>V<WARDRIRQGWTYGIQQDVKNRRNPRLVPYT	1036
RYR1	YKPAPLDLSHVRLTPAQTTLVDRLAENGHN>V<WARDRVGQGWSYSAVQDIPARRNPRLVPYR	1024
RYR3	YKPAPLDLSDVKLLPPQEILVDKLAENAHN>V<WAKDRIKQGWTYGIQQDLKNKRNPRLVPYA	1023
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1006L	c.3016G>C	Putative Benign		rs376931962	SIFT: tolerated Polyphen: possibly damaging