Paralogue Annotation for RYR2 residue 2486

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2486
Reference Amino Acid: H - Histidine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2486

No paralogue variants have been mapped to residue 2486 for RYR2.

RYR2	MSAGFCPDHKAAMVLFLDRVYGIEVQDFLL>H<LLEVGFLPDLRAAASLDTAALSATDMALAL	2516
RYR1	MSASFVPDHKASMVLFLDRVYGIENQDFLL>H<VLDVGFLPDMRAAASLDTATFSTTEMALAL	2550
RYR3	MAANFCPDHKAPMVLFLDRVYGIKDQTFLL>H<LLEVGFLPDLRASASLDTVSLSTTEAALAL	2413
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H2486Q	c.7458T>G	Putative Benign		rs377763795	SIFT: tolerated Polyphen: probably damaging