Paralogue Annotation for RYR2 residue 3574

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3574
Reference Amino Acid: C - Cysteine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3574

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR1	L3606P	Central core disease	Medium	6	16621918

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	PEKTVERVLDIANVLFHLEQKSKRVGRRHY>C<L-VEHPQRSKKAVWHKLLSKQRKRAVVACF	3603
RYR1	PEKIVRRV-------------QEVSAVLYY>L<DQTEHPYKSKKAVWHKLLSKQRRRAVVACF	3636
RYR3	PEKTVERV-------------QRISAAVFH>L<EQVEQPLRSKKAVWHKLLSKQRKRAVVACF	3491
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

There are currently no reported variants at residue 3574 for RYR2.