Paralogue Annotation for RYR2 residue 2877

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2877
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2877

No paralogue variants have been mapped to residue 2877 for RYR2.

RYR2	NYHNIWAKKKKMELESKGGGNHPLLVPYDT>L<TAKEKAKDREKAQDILKFLQINGYAVSRGF	2907
RYR1	NYHNTWGRKKKQELEAKGGGTHPLLVPYDT>L<TAKEKARDREKAQELLKFLQMNGYAVTRGL	2941
RYR3	NYHNIWAKKKKLELESKGGGSHPLLVPYDT>L<TAKEKFKDREKAQDLFKFLQVNGIIVSRGM	2802
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L2877M	c.8629C>A	Putative Benign			SIFT: Polyphen: