Paralogue Annotation for RYR2 residue 4700

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4700
Reference Amino Acid: S - Serine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4700

No paralogue variants have been mapped to residue 4700 for RYR2.

RYR2	LGMDKAALDFSDAREKKKPKKDSSLSAVLN>S<IDVKYQMWKLGVVFTDNSFLYLAWYMTMSV	4730
RYR1	LGMDLATLEITAHNER-KPNPPPGLLTWLM>S<IDVKYQIWKFGVIFTDNSFLYLGWYMVMSL	4801
RYR3	LGLDKNALDFSPVEET-KA-EAASLVSWLS>S<IDMKYHIWKLGVVFTDNSFLYLAWYTTMSV	4633
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S4700A	c.14098T>G	Putative Benign			SIFT: Polyphen: