Paralogue Annotation for RYR2 residue 4363

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4363
Reference Amino Acid: L - Leucine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4363

No paralogue variants have been mapped to residue 4363 for RYR2.

RYR2	MPDPTQDEVRGDGEEGERKP-LEAALPSED>L<TDLKELTEESDLLSD-----IFGLDLKREG	4388
RYR1	MPDPTSDEVHGEQPAGPGGDADGEGASEGA>G<DAAEGAGDEEEAVHEAGPGGADGAVAVTDG	4443
RYR3	MPDPTQFGIHDDTMEAERAEVMEPGITTEL>V<HFIKGEKGDTDIMSD-----LFGLHPKKEG	4290
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L4363V	c.13087C>G	Putative Benign			SIFT: Polyphen:
p.L4363P	c.13088T>C	Putative Benign			SIFT: Polyphen: