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.



RYR2MPDPTQDEVRGDGEEGERKP-LEAALPSED>L<TDLKELTEESDLLSD-----IFGLDLKREG4388
RYR1MPDPTSDEVHGEQPAGPGGDADGEGASEGA>G<DAAEGAGDEEEAVHEAGPGGADGAVAVTDG4443
RYR3MPDPTQFGIHDDTMEAERAEVMEPGITTEL>V<HFIKGEKGDTDIMSD-----LFGLHPKKEG4290
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L4363Vc.13087C>G Putative BenignSIFT:
Polyphen:
p.L4363Pc.13088T>C Putative BenignSIFT:
Polyphen: