Paralogue Annotation for RYR2 residue 4869

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4869
Reference Amino Acid: A - Alanine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4869

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1A4940TCentral core diseaseHigh9 12565913, 23558838

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.



RYR2YEIYRIIFDITFFFFVIVILLAIIQGLIID>A<FGELRDQQEQVKEDMETKCFICGIGNDYFD4899
RYR1YELYRVVFDITFFFFVIVILLAIIQGLIID>A<FGELRDQQEQVKEDMETKCFICGIGSDYFD4970
RYR3YEMYRIVFDITFFFFVIVILLAIIQGLIID>A<FGELRDQQEQVREDMETKCFICGIGNDYFD4802
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 4869 for RYR2.