Paralogue Annotation for RYR2 residue 4280

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4280
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4280

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR1	A4329D	Myopathy, congenital	Medium	7	17483490

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	YNILTLMRMLSLKSLKKQMKKVKKMTVKDM>V<TAFFSSYWSIFMTLLHFVASVFRGFFRIIC	4310
RYR1	AAAGRALRGLSYRSLRRRVRRLRRLTAREA>A<TAVAALLWAAVTRAGAAGAGAAAGALGLLW	4359
RYR3	RNVTDFLKRATLKNLRKQYRNVKKMTAKEL>V<KVLFSFFWMLFVGLFQLLFTILGGIFQILW	4211
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

There are currently no reported variants at residue 4280 for RYR2.