Paralogue Annotation for RYR2 residue 717

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 717
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 717

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR1	G705R	Myopathy, congenital	High	9	22473935

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	TAEATHLRVGWASTEGYSPYPGGGEEWGGN>G<VGDDLFSYGFDGLHLWSGCIARTVSSPNQH	747
RYR1	TAQATHLRVGWALTEGYTPYPGAGEGWGGN>G<VGDDLYSYGFDGLHLWTGHVARPVTSPGQH	735
RYR3	TAEPTHLRVGWASSSGYAPYPGGGEGWGGN>G<VGDDLYSYGFDGLHLWSGRIPRAVASINQH	734
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

There are currently no reported variants at residue 717 for RYR2.