Paralogue Annotation for RYR2 residue 2174

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2174
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2174

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1V2210FMalignant hyperthermiaHigh9 15731587

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.



RYR2RGLGDIMNNKVFYQHPNLMRALGMHETVME>V<MVNVLGGGESKEITFPKMVANCCRFLCYFC2204
RYR1QSIGNIMNNKVFYQHPNLMRALGMHETVME>V<MVNVLGGGESKEIRFPKMVTSCCRFLCYFC2240
RYR3NGLGDIMNNKVFYQHPNLMRVLGMHETVME>V<MVNVLGT-EKSQIAFPKMVASCCRFLCYFC2101
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 2174 for RYR2.