Paralogue Annotation for RYR2 residue 3444

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3444
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3444

No paralogue variants have been mapped to residue 3444 for RYR2.

RYR2	FVVQNEINNMSFLITDTKSKMSKAA----->V<SDQERKKMKRKGDRYSMQTSLIVAALKRLL	3474
RYR1	FVVQNEINNMSFLTADNKSKMAKAGDIQSG>G<SDQERTKKKRRGDRYSVQTSLIVATLKKML	3518
RYR3	FVIQNEINNLAFLTGDSKSKMSKAMQVKSG>G<QDQERKKTKRRGDLYSIQTSLIVAALKKML	3375
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V3444L	c.10330G>C	Putative Benign			SIFT: Polyphen: