Paralogue Annotation for RYR2 residue 4778

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4778
Reference Amino Acid: V - Valine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4778

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR1	V4849I	Central core disease	High	9	12136074, 19648156, 22473935, 23329375, 23558838, 25958340

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	MGFKTLRTILSSVTHNGKQLVLTVGLLAVV>V<YLYTVVAFNFFRKFYNKSEDGDTPDMKCDD	4808
RYR1	MGVKTLRTILSSVTHNGKQLVMTVGLLAVV>V<YLYTVVAFNFFRKFYNKSEDEDEPDMKCDD	4879
RYR3	MGFKTLRTILSSVTHNGKQLVLTVGLLAVV>V<YLYTVVAFNFFRKFYNKSEDDDEPDMKCDD	4711
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

There are currently no reported variants at residue 4778 for RYR2.