Paralogue Annotation for RYR2 residue 1164

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1164
Reference Amino Acid: C - Cysteine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1164

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR1	C1150Y	Arthrogryposis multiplex congenita with axoglial d	High	9	24319099

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.

RYR2	AFAFDGFKAQRWHQGNEHYGRSWQAGDVVG>C<MVDMNEHTMMFTLNGEILLDDSGSELAFKD	1194
RYR1	AYVFNGHRGQRWHLGSEPFGRPWQPGDVVG>C<MIDLTENTIIFTLNGEVLMSDSGSETAFRE	1180
RYR3	AFVFEGNRGQRWHQGSGYFGRTWQPGDVVG>C<MINLDDASMIFTLNGELLITNKGSELAFAD	1180
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

There are currently no reported variants at residue 1164 for RYR2.