Paralogue Annotation for RYR2 residue 2150

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2150
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2150

No paralogue variants have been mapped to residue 2150 for RYR2.



RYR2LASLGQIRSLLSVRMGKEEEKLMIRGLGDI>M<NNKVFYQHPNLMRALGMHETVMEVMVNVLG2180
RYR1LECLGQIRSLLIVQMGPQEENLMIQSIGNI>M<NNKVFYQHPNLMRALGMHETVMEVMVNVLG2216
RYR3LAALGQIRSLLSVRMGKEEELLMINGLGDI>M<NNKVFYQHPNLMRVLGMHETVMEVMVNVLG2078
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M2150Ic.6450G>A UnknownSIFT:
Polyphen:
ReportsUnknown Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510