Paralogue Annotation for RYR2 residue 1100

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1100
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1100

No paralogue variants have been mapped to residue 1100 for RYR2.



RYR2DHAARAEVCSGTGERFRIFRAEKTYAVKAG>R<WYFEFETVTAGDMRVGWSRPGCQPDQELGS1130
RYR1EP-SQVEN-QSRCDRVRIFRAEKSYTVQSG>R<WYFEFEAVTTGEMRVGWARPELRPDVELGA1116
RYR3EL-ADSAVEKVSIDKIRFFRVERSYAVRSG>K<WYFEFEVVTGGDMRVGWARPGCRPDVELGA1116
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1100Qc.3299G>A Putative BenignSIFT:
Polyphen: