Paralogue Annotation for RYR2 residue 4838

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4838
Reference Amino Acid: E - Glutamate
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4838

No paralogue variants have been mapped to residue 4838 for RYR2.

RYR2	DMLTCYMFHMYVGVRAGGGIGDEIEDPAGD>E<YEIYRIIFDITFFFFVIVILLAIIQGLIID	4868
RYR1	DMMTCYLFHMYVGVRAGGGIGDEIEDPAGD>E<YELYRVVFDITFFFFVIVILLAIIQGLIID	4939
RYR3	DMMTCYLFHMYVGVRAGGGIGDEIEDPAGD>P<YEMYRIVFDITFFFFVIVILLAIIQGLIID	4771
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4838G	c.14513A>G	Putative Benign			SIFT: Polyphen: