Paralogue Annotation for RYR1 residue 2241

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2241
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2241

No paralogue variants have been mapped to residue 2241 for RYR1.



RYR1MVNVLGGGESKEIRFPKMVTSCCRFLCYFC>R<ISRQNQRSMFDHLSYLLENSGIG--L-GMQ2268
RYR2MVNVLGGGESKEITFPKMVANCCRFLCYFC>R<ISRQNQKAMFDHLSYLLENSSVGLASPAMR2235
RYR3MVNVLGT-EKSQIAFPKMVASCCRFLCYFC>R<ISRQNQKAMFEHLSYLLENSSVGLASPSMR2132
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R2241Gc.6721C>G Putative BenignSIFT:
Polyphen:
p.R2241Lc.6722G>T Putative BenignSIFT:
Polyphen:
p.R2241Qc.6722G>A Putative BenignSIFT:
Polyphen: