Paralogue Annotation for RYR2 residue 4893

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4893
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4893

No paralogue variants have been mapped to residue 4893 for RYR2.

RYR2	QGLIIDAFGELRDQQEQVKEDMETKCFICG>I<GNDYFDTVPHGFETHTLQEHNLANYLFFLM	4923
RYR1	QGLIIDAFGELRDQQEQVKEDMETKCFICG>I<GSDYFDTTPHGFETHTLEEHNLANYMFFLM	4994
RYR3	QGLIIDAFGELRDQQEQVREDMETKCFICG>I<GNDYFDTTPHGFETHTLQEHNLANYLFFLM	4826
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I4893T	c.14678T>C	Putative Benign			SIFT: Polyphen: