Paralogue Annotation for RYR1 residue 2146

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2146
Reference Amino Acid: P - Proline
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2146

No paralogue variants have been mapped to residue 2146 for RYR1.



RYR1LVRAMFSLLHRQYDGLGELLRALPRAYTIS>P<SSVEDTMSLLECLGQIRSLLIVQMGPQEEN2176
RYR2LVRAMFVLLHRQYDGIGGLVRALPKTYTIN>G<VSVEDTINLLASLGQIRSLLSVRMGKEEEK2140
RYR3LVRMMFNLLRRQYDSIGELLQALRKTYTIS>H<TSVSDTINLLAALGQIRSLLSVRMGKEEEL2038
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P2146Ac.6436C>G Putative BenignSIFT:
Polyphen: