Paralogue Annotation for RYR1 residue 301

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 301
Reference Amino Acid: V - Valine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 301

No paralogue variants have been mapped to residue 301 for RYR1.



RYR1SHLRWGQPLRVRHVTTGQYLALTEDQGLVV>V<DASKAHTKATSFCFRI---SKEKLDVAPKR328
RYR2SHIRWGQPFRLRHVTTGKYLSLMEDKNLLL>M<DKEKADVKSTAFTFRS---SKEKLDVGVRK344
RYR3SNIRWGQAFRLRHLTTGHYLALTEDQGLIL>Q<DRAKSDTKSTAFSFRASKELKEKLDSSHKR336
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V301Ac.902T>C Putative BenignSIFT: tolerated
Polyphen: possibly damaging