Paralogue Annotation for RYR2 residue 3348

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3348
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3348

No paralogue variants have been mapped to residue 3348 for RYR2.



RYR2HFLPLMEKLKKKAATVVSEEDHLKAEARGD>M<SEAELLILDEFTTLARDLYAFYPLLIRFVD3378
RYR1HFIPTIGRLRKRAGKVVSEEEQLRLEAKAE>A<QEGELLVRDEFSVLCRDLYALYPLLIRYVD3417
RYR3HFIPTLEKLKKKAVKTVQEEEQLKADGKGD>T<QEAELLILDEFAVLCRDLYAFYPMLIRYVD3274
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Met3348Argc.10043T>G UnknownSIFT:
Polyphen: