Paralogue Annotation for RYR2 residue 2062

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2062
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2062

No paralogue variants have been mapped to residue 2062 for RYR2.



RYR2EKVTYLKKKQA--EKPVESDSKKSSTLQQL>I<SETMVRWAQESVIEDPELVRAMFVLLHRQY2092
RYR1EKVRLVKKKEEKPEEERSAEESKPRSLQEL>V<SHMVVRWAQEDFVQSPELVRAMFSLLHRQY2128
RYR3YKIKGPPKPEK--EQPTEEEERCPTTLKEL>I<SQTMICWAQEDQIQDSELVRMMFNLLRRQY1990
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I2062Tc.6185T>C Putative BenignSIFT:
Polyphen: