Paralogue Annotation for RYR2 residue 778

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 778
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 778

No paralogue variants have been mapped to residue 778 for RYR2.



RYR2LLRTDDVISCCLDLSAPSISFRINGQPVQG>M<FENFNIDGLFFPVVSFSAGIKVRFLLGGRH808
RYR1LLAPEDVISCCLDLSVPSISFRINGCPVQG>V<FESFNLDGLFFPVVSFSAGVKVRFLLGGRH796
RYR3LLRSDDVVSCCLDLGVPSISFRINGQPVQG>M<FENFNTDGLFFPVMSFSAGVKVRFLMGGRH795
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M778Ic.2334G>C Putative BenignSIFT:
Polyphen:
p.M778Ic.2334G>A UnknownSIFT:
Polyphen:
ReportsUnknown The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med 2014 Aug;16(8):601-8. 24503780