Paralogue Annotation for RYR2 residue 3032

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3032
Reference Amino Acid: C - Cysteine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3032

No paralogue variants have been mapped to residue 3032 for RYR2.

RYR2	EMVTSLFCKLGVLVRHRISLFGNDATSIVN>C<LHILGQTLDARTVMKTGLESVKSALRAFLD	3062
RYR1	EMITSLFCKLAALVRHRVSLFGTDAPAVVN>C<LHILARSLDARTVMKSGPEIVKAGLRSFFE	3097
RYR3	EMVAGLFCKLAALVRHRISLFGSDSTTMVS>C<LHILAQTLDTRTVMKSGSELVKAGLRAFFE	2958
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.C3032G	c.9094T>G	Putative Benign		rs193007458	SIFT: deleterious Polyphen: probably damaging