Paralogue Annotation for RYR2 residue 4220

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4220
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4220

No paralogue variants have been mapped to residue 4220 for RYR2.



RYR2VNFCEDTIFEMQLAAQISESDLNERSANKE>E<SEK-----ERPEEQGPRMAFFSILTVRSAL4245
RYR1VSFCEDTIFEMQIAAQISEPEGEPETDEDE>G<AGAAEAGAEGAEEGAAGLEGTAATAAAGAT4294
RYR3VNFCEDTIFEMQLASQISESDSADRPEEEE>E<DEDSSYVLEIAGEEEEDGSLEPASAFAMAC4146
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E4220Kc.12658G>A Putative BenignSIFT:
Polyphen: