Paralogue Annotation for RYR2 residue 4712

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4712
Reference Amino Acid: V - Valine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4712

No paralogue variants have been mapped to residue 4712 for RYR2.

RYR2	AREKKKPKKDSSLSAVLNSIDVKYQMWKLG>V<VFTDNSFLYLAWYMTMSVLGHYNNFFFAAH	4742
RYR1	HNER-KPNPPPGLLTWLMSIDVKYQIWKFG>V<IFTDNSFLYLGWYMVMSLLGHYNNFFFAAH	4813
RYR3	VEET-KA-EAASLVSWLSSIDMKYHIWKLG>V<VFTDNSFLYLAWYTTMSVLGHYNNFFFAAH	4645
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V4712F	c.14134G>T	Putative Benign		rs368627292	SIFT: deleterious Polyphen: probably damaging