Paralogue Annotation for RYR2 residue 199

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 199
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 199

No paralogue variants have been mapped to residue 199 for RYR2.



RYR2RSEGEKVRVGDDLILVSVSSERYLHLSYGN>G<SLHVDAAFQQTLWSVAPISSGSEAAQGYLI229
RYR1RSEGEKVRVGDDIILVSVSSERYLHLSTAS>G<ELQVDASFMQTLWNMNPICSR--CEEGFVT214
RYR3RSEGEKVRIGDDLILVSVSSERYLHLSVSN>G<NIQVDASFMQTLWNVHPTCSGSSIEEGYLL219
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G199Vc.596G>T Putative BenignSIFT:
Polyphen:
p.Gly199Serc.595G>A UnknownSIFT:
Polyphen: