Paralogue Annotation for RYR2 residue 4571

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4571
Reference Amino Acid: T - Threonine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4571

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1A4643PMuscular dystrophyMedium9 27159402

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 RYR2.



RYR2SLDS-----SSHRIIAVHYVLEESSGYMEP>T<LRILAILHTVISFFCIIGYYCLKVPLVIFK4601
RYR1GLGAGEEAEGDEDENMVYYFLEESTGYMEP>A<LRCLSLLHTLVAFLCIIGYNCLKVPLVIFK4673
RYR3SFND-----EEEEEAMVFFVLQESTGYMAP>T<LRALAIIHTIISLVCVVGYYCLKVPLVVFK4506
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T4571Mc.13712C>T Putative BenignSIFT: tolerated
Polyphen: benign