Paralogue Annotation for RYR2 residue 4718

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4718
Reference Amino Acid: S - Serine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4718

No paralogue variants have been mapped to residue 4718 for RYR2.

RYR2	PKKDSSLSAVLNSIDVKYQMWKLGVVFTDN>S<FLYLAWYMTMSVLGHYNNFFFAAHLLDIAM	4748
RYR1	PNPPPGLLTWLMSIDVKYQIWKFGVIFTDN>S<FLYLGWYMVMSLLGHYNNFFFAAHLLDIAM	4819
RYR3	A-EAASLVSWLSSIDMKYHIWKLGVVFTDN>S<FLYLAWYTTMSVLGHYNNFFFAAHLLDIAM	4651
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S4718Y	c.14153C>A	Putative Benign			SIFT: Polyphen: