Paralogue Annotation for RYR2 residue 4683

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4683
Reference Amino Acid: R - Arginine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4683

No paralogue variants have been mapped to residue 4683 for RYR2.

RYR2	VMDKYGEFYGRDRISELLGMDKAALDFSDA>R<EKKKPKKDSSLSAVLNSIDVKYQMWKLGVV	4713
RYR1	VLDKHGDIYGRERIAELLGMDLATLEITAH>N<ER-KPNPPPGLLTWLMSIDVKYQIWKFGVI	4784
RYR3	VINKYGDLYGAERIAELLGLDKNALDFSPV>E<ET-KA-EAASLVSWLSSIDMKYHIWKLGVV	4616
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R4683K	c.14048G>A	Putative Benign			SIFT: Polyphen:
p.R4683S	c.14049A>T	Putative Benign			SIFT: Polyphen: