Paralogue Annotation for RYR2 residue 3718

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3718
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3718

No paralogue variants have been mapped to residue 3718 for RYR2.



RYR2ADIMAKSCHDEED-D--DGEEE-VKSFEEK>E<MEKQKLLYQQARLHDRGAAEMVLQTISASK3748
RYR1ADIMAKSCHLEEGGENGEAEEEVEVSFEEK>Q<MEKQRLLYQQARLHTRGAAEMVLQMISACK3786
RYR3SSMMAKSCQSGED-E--EEDEDKEKTFEEK>E<MEKQKTLYQQARLHERGAAEMVLQMISASK3638
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Glu3718Lysc.11152G>A UnknownSIFT:
Polyphen: