Paralogue Annotation for RYR2 residue 2255

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2255
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2255

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1L2288SCentral core diseaseHigh9 25960145

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.



RYR2SSVGLASPAMRGSTPLDVAAASVMDNNELA>L<ALREPDLEKVVRYLAGCGLQSCQMLVSKGY2285
RYR1SGIG--L-GMQGSTPLDVAAASVIDNNELA>L<ALQEQDLEKVVSYLAGCGLQSCPMLVAKGY2318
RYR3SSVGLASPSMRGSTPLDVAASSVMDNNELA>L<SLEEPDLEKVVTYLAGCGLQSCPMLLAKGY2182
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 2255 for RYR2.