Paralogue Annotation for RYR2 residue 385

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 385
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 385

No paralogue variants have been mapped to residue 385 for RYR2.



RYR2KYGDSVCYIQHVDTGLWLTYQSVDVKSVRM>G<SIQRKAIMHHEGHMDDGISLSRSQHEESRT415
RYR1KYGESLCFVQHVASGLWLTYAAPDPKALRL>G<VLKKKAMLHQEGHMDDALSLTRCQQEESQA399
RYR3KYGDSVCFVQHIASGLWVTYKAQDAKTSRL>G<PLKRKVILHQEGHMDDGLTLQRCQREESQA407
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G385Ec.1154G>A Putative BenignSIFT: deleterious
Polyphen: probably damaging
p.G385Ac.1154G>C Putative BenignSIFT:
Polyphen: