Paralogue Annotation for RYR2 residue 4228

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4228
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4228

No paralogue variants have been mapped to residue 4228 for RYR2.



RYR2AAQISESDLNERSANKEESEK-----ERPE>E<QGPRMAFFSILTVRSALFALRYNILTLMRM4258
RYR1AAQISEPEGEPETDEDEGAGAAEAGAEGAE>E<GAAGLEGTAATAAAGATARVVAAAGRALRG4307
RYR3ASQISESDSADRPEEEEEDEDSSYVLEIAG>E<EEEDGSLEPASAFAMACASVKRNVTDFLKR4159
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E4228Dc.12684G>T Putative BenignSIFT:
Polyphen: