Paralogue Annotation for RYR2 residue 3042

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3042
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3042

No paralogue variants have been mapped to residue 3042 for RYR2.



RYR2GVLVRHRISLFGNDATSIVNCLHILGQTLD>A<RTVMKTGLESVKSALRAFLDNAAEDLEKTM3072
RYR1AALVRHRVSLFGTDAPAVVNCLHILARSLD>A<RTVMKSGPEIVKAGLRSFFESASEDIEKMV3107
RYR3AALVRHRISLFGSDSTTMVSCLHILAQTLD>T<RTVMKSGSELVKAGLRAFFENAAEDLEKTS2968
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Ala3042Gluc.9125C>A UnknownSIFT:
Polyphen: