Paralogue Annotation for RYR2 residue 3480

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3480
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3480

No paralogue variants have been mapped to residue 3480 for RYR2.



RYR2KKMKRKGDRYSMQTSLIVAALKRLLPIGLN>I<CAPGDQELIALAKNRFSLKDTEDEVRDIIR3510
RYR1TKKKRRGDRYSVQTSLIVATLKKMLPIGLN>M<CAPTDQDLITLAKTRYALKDTDEEVREFLH3554
RYR3KKTKRRGDLYSIQTSLIVAALKKMLPIGLN>M<CTPGDQELISLAKSRYSHRDTDEEVREHLR3411
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I3480Tc.10439T>C Putative BenignSIFT:
Polyphen: