Paralogue Annotation for RYR1 residue 185

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 185
Reference Amino Acid: S - Serine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 185

No paralogue variants have been mapped to residue 185 for RYR1.



RYR1QRSEGEKVRVGDDIILVSVSSERYLHLSTA>S<GELQVDASFMQTLWNMNPICSR--CEEGFV213
RYR2QRSEGEKVRVGDDLILVSVSSERYLHLSYG>N<GSLHVDAAFQQTLWSVAPISSGSEAAQGYL228
RYR3QRSEGEKVRIGDDLILVSVSSERYLHLSVS>N<GNIQVDASFMQTLWNVHPTCSGSSIEEGYL218
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S185Nc.554G>A BenignSIFT:
Polyphen: probably damaging