Paralogue Annotation for RYR1 residue 3614

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3614
Reference Amino Acid: K - Lysine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3614

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR2	R3581K	Sudden unexpected death in infancy	Medium	9	26350513

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	-------------QEVSAVLYYLDQTEHPY>K<SKKAVWHKLLSKQRRRAVVACFRMTPLYNL	3644
RYR2	LDIANVLFHLEQKSKRVGRRHYCL-VEHPQ>R<SKKAVWHKLLSKQRKRAVVACFRMAPLYNL	3611
RYR3	-------------QRISAAVFHLEQVEQPL>R<SKKAVWHKLLSKQRKRAVVACFRMAPLYNL	3499
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

There are currently no reported variants at residue 3614 for RYR1.