Paralogue Annotation for RYR2 residue 3939

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3939
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3939

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1R3983HMalignant hyperthermia ?High9 20439600
RYR1R3983CMalignant hyperthermiaHigh9 21918424

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.



RYR2AIQVAKQVFNTLTEYIQGPCTGNQQSLAHS>R<LWDAVVGFLHVFAHMQMKLSQDSSQIELLK3969
RYR1AMSVAKQVFNSLTEYIQGPCTGNQQSLAHS>R<LWDAVVGFLHVFAHMMMKLAQDSSQIELLK4013
RYR3ALAVTKQIFNSLTEYIQGPCIGNQQSLAHS>R<LWDAVVGFLHVFANMQMKLSQDSSQIELLK3865
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 3939 for RYR2.