Paralogue Annotation for RYR2 residue 2501

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2501
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2501

No paralogue variants have been mapped to residue 2501 for RYR2.

RYR2	FLDRVYGIEVQDFLLHLLEVGFLPDLRAAA>S<LDTAALSATDMALALNRYLCTAVLPLLTRC	2531
RYR1	FLDRVYGIENQDFLLHVLDVGFLPDMRAAA>S<LDTATFSTTEMALALNRYLCLAVLPLITKC	2565
RYR3	FLDRVYGIKDQTFLLHLLEVGFLPDLRASA>S<LDTVSLSTTEAALALNRYICSAVLPLLTRC	2428
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S2501A	c.7501T>G	Putative Benign			SIFT: Polyphen: