Paralogue Annotation for RYR2 residue 4344

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4344
Reference Amino Acid: G - Glycine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4344

No paralogue variants have been mapped to residue 4344 for RYR2.



RYR2LGGSLVEGAKKIKVAELLANMPDPTQDEVR>G<DGEEGERKP-LEAALPSEDLTDLKELTEES4373
RYR1FGGGLVEGAKKVTVTELLAGMPDPTSDEVH>G<EQPAGPGGDADGEGASEGAGDAAEGAGDEE4423
RYR3FGGGLVEGAKNIRVTKILGDMPDPTQFGIH>D<DTMEAERAEVMEPGITTELVHFIKGEKGDT4275
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G4344Ec.13031G>A Putative BenignSIFT: tolerated
Polyphen: benign