Paralogue Annotation for RYR2 residue 2754

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2754
Reference Amino Acid: Q - Glutamine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2754

No paralogue variants have been mapped to residue 2754 for RYR2.

RYR2	YAEHSHDKWSMDKLANGWIYGEIYSDSSKV>Q<PLMKPYKLLSEKEKEIYRWPIKESLKTMLA	2784
RYR1	FAEYTHEKWAFDKIQNNWSYGENIDEELKT>H<PMLRPYKTFSEKDKEIYRWPIKESLKAMIA	2818
RYR3	YAEHSHDKWACDKSQSGWKYGISLDENVKT>H<PLIRPFKTLTEKEKEIYRWPARESLKTMLA	2681
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q2754H	c.8262G>C	Putative Benign			SIFT: Polyphen: