Paralogue Annotation for RYR1 residue 2401

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2401
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2401

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2G2367RArrhythmogenic right ventricular dysplasia/cardiomMedium4 25041964, 26350513

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in RYR1.



RYR1EGGSGLLAAIEEAIRISEDPARDGPGIRRD>R<RREHFGEEPPEENRVHLGHAIMSFYAALID2431
RYR2EGGNGLLAAMEEAIKIAEDPSRDGPSPNS->G<SSKTLDTEEEEDDTIHMGNAIMTFYSALID2397
RYR3EGGNGLLAAMQGAIKISENPALDLPSQGY->K<REVSTGDDEEEEEIVHMGNAIMSFYSALID2294
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R2401Lc.7202G>T Putative BenignSIFT: tolerated
Polyphen: possibly damaging
p.R2401Qc.7202G>A Putative BenignSIFT:
Polyphen:
p.R2401Wc.7201C>T UnknownSIFT:
Polyphen: benign