Paralogue Annotation for RYR2 residue 2132

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2132
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2132

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1V2168MMalignant hyperthermiaHigh9 9497245, 11668625, 19648156, 12732639, 25466363

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.



RYR2LPKTYTINGVSVEDTINLLASLGQIRSLLS>V<RMGKEEEKLMIRGLGDIMNNKVFYQHPNLM2162
RYR1LPRAYTISPSSVEDTMSLLECLGQIRSLLI>V<QMGPQEENLMIQSIGNIMNNKVFYQHPNLM2198
RYR3LRKTYTISHTSVSDTINLLAALGQIRSLLS>V<RMGKEEELLMINGLGDIMNNKVFYQHPNLM2060
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 2132 for RYR2.