Paralogue Annotation for RYR2 residue 4706

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4706
Reference Amino Acid: Q - Glutamine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4706

No paralogue variants have been mapped to residue 4706 for RYR2.

RYR2	ALDFSDAREKKKPKKDSSLSAVLNSIDVKY>Q<MWKLGVVFTDNSFLYLAWYMTMSVLGHYNN	4736
RYR1	TLEITAHNER-KPNPPPGLLTWLMSIDVKY>Q<IWKFGVIFTDNSFLYLGWYMVMSLLGHYNN	4807
RYR3	ALDFSPVEET-KA-EAASLVSWLSSIDMKY>H<IWKLGVVFTDNSFLYLAWYTTMSVLGHYNN	4639
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q4706H	c.14118G>C	Putative Benign			SIFT: tolerated Polyphen: probably damaging