Paralogue Annotation for RYR2 residue 2819

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2819
Reference Amino Acid: H - Histidine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2819

No paralogue variants have been mapped to residue 2819 for RYR2.

RYR2	RTREGDSMALYNRTRRISQTSQV--SVDAA>H<GYSPRAIDMSNVTLSRDLHAMAEMMAENYH	2849
RYR1	KAREGEEEK--TEKKKTRKISQSAQTYDPR>E<GYNPQPPDLSAVTLSRELQAMAEQLAENYH	2883
RYR3	RTKEGEALVQQRENEKLRSVSQA--NQ--G>N<SYSPAPLDLSNVVLSRELQGMVEVVAENYH	2744
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H2819Y	c.8455C>T	Putative Benign			SIFT: Polyphen: