Paralogue Annotation for RYR2 residue 229

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 229
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 229

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR1	T214M	Malignant hyperthermia	Medium	7	25658027

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	GSLHVDAAFQQTLWSVAPISSGSEAAQGYL>I<GGDVLRLLHGHMDECLTVPSGEHGEEQRRT	259
RYR1	GELQVDASFMQTLWNMNPICSR--CEEGFV>T<GGHVLRLFHGHMDECLTISPAD-SDDQRRL	243
RYR3	GNIQVDASFMQTLWNVHPTCSGSSIEEGYL>L<GGHVVRLFHGH-DECLTIPSTDQNDSQHRR	248
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I229V	c.685A>G	Putative Benign		rs368653489	SIFT: tolerated Polyphen: benign
p.I229L	c.685A>C	Putative Benign			SIFT: Polyphen: benign