Paralogue Annotation for RYR2 residue 2905

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2905
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2905

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR1	R2939K	Myopathy, congenital	High	9	17483490, 20080402

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	DTLTAKEKAKDREKAQDILKFLQINGYAVS>R<GFKDLELDTPSIEKRFAYSFLQQLIRYVDE	2935
RYR1	DTLTAKEKARDREKAQELLKFLQMNGYAVT>R<GLKDMELDSSSIEKRFAFGFLQQLLRWMDI	2969
RYR3	DTLTAKEKFKDREKAQDLFKFLQVNGIIVS>R<GMKDMELDASSMEKRFAYKFLKKILKYVDS	2830
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

There are currently no reported variants at residue 2905 for RYR2.