Paralogue Annotation for RYR1 residue 2188

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2188
Reference Amino Acid: N - Asparagine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2188

No paralogue variants have been mapped to residue 2188 for RYR1.



RYR1CLGQIRSLLIVQMGPQEENLMIQSIGNIMN>N<KVFYQHPNLMRALGMHETVMEVMVNVLGGG2218
RYR2SLGQIRSLLSVRMGKEEEKLMIRGLGDIMN>N<KVFYQHPNLMRALGMHETVMEVMVNVLGGG2182
RYR3ALGQIRSLLSVRMGKEEELLMINGLGDIMN>N<KVFYQHPNLMRVLGMHETVMEVMVNVLGT-2079
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.N2188Kc.6564C>G Putative BenignSIFT: deleterious
Polyphen: benign
p.N2188Dc.6562A>G Putative BenignSIFT:
Polyphen: