Paralogue Annotation for RYR2 residue 2095

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2095
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2095

No paralogue variants have been mapped to residue 2095 for RYR2.



RYR2TMVRWAQESVIEDPELVRAMFVLLHRQYDG>I<GGLVRALPKTYTINGVSVEDTINLLASLGQ2125
RYR1MVVRWAQEDFVQSPELVRAMFSLLHRQYDG>L<GELLRALPRAYTISPSSVEDTMSLLECLGQ2161
RYR3TMICWAQEDQIQDSELVRMMFNLLRRQYDS>I<GELLQALRKTYTISHTSVSDTINLLAALGQ2023
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I2095Tc.6284T>C Putative Benignrs142498105SIFT: tolerated
Polyphen: benign