Paralogue Annotation for RYR2 residue 1006

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1006
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1006

No paralogue variants have been mapped to residue 1006 for RYR2.



RYR2YKPAPMDLSFIKLTPSQEAMVDKLAENAHN>V<WARDRIRQGWTYGIQQDVKNRRNPRLVPYT1036
RYR1YKPAPLDLSHVRLTPAQTTLVDRLAENGHN>V<WARDRVGQGWSYSAVQDIPARRNPRLVPYR1024
RYR3YKPAPLDLSDVKLLPPQEILVDKLAENAHN>V<WAKDRIKQGWTYGIQQDLKNKRNPRLVPYA1023
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V1006Lc.3016G>C Putative BenignSIFT: tolerated
Polyphen: possibly damaging