Paralogue Annotation for RYR1 residue 2755

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2755
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2755

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR2	I2721T	Sudden cardiac death	High	9	25467552

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 RYR1.

RYR1	KKATVDAEGNFDPRPVETLNVIIPEKLDSF>I<NKFAEYTHEKWAFDKIQNNWSYGENIDEEL	2785
RYR2	KQSSMDSEGNFNPQPVDTSNITIPEKLEYF>I<NKYAEHSHDKWSMDKLANGWIYGEIYSDSS	2751
RYR3	KQISVDADGNFDPKPINTMNFSLPEKLEYI>V<TKYAEHSHDKWACDKSQSGWKYGISLDENV	2648
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

There are currently no reported variants at residue 2755 for RYR1.