Paralogue Annotation for RYR2 residue 2920

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2920
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2920

No paralogue variants have been mapped to residue 2920 for RYR2.

RYR2	QDILKFLQINGYAVSRGFKDLELDTPSIEK>R<FAYSFLQQLIRYVDEAHQYILEFDGG-SRG	2949
RYR1	QELLKFLQMNGYAVTRGLKDMELDSSSIEK>R<FAFGFLQQLLRWMDISQEFIAHLEAVVSSG	2984
RYR3	QDLFKFLQVNGIIVSRGMKDMELDASSMEK>R<FAYKFLKKILKYVDSAQEFIAHLEAIVSSG	2845
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2920Q	c.8759G>A	Putative Benign			SIFT: Polyphen:
p.Arg2920Leu	c.8759G>T	Unknown			SIFT: Polyphen: