Paralogue Annotation for RYR2 residue 4904

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4904
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4904

No paralogue variants have been mapped to residue 4904 for RYR2.



RYR2RDQQEQVKEDMETKCFICGIGNDYFDTVPH>G<FETHTLQEHNLANYLFFLMYLINKDETEHT4934
RYR1RDQQEQVKEDMETKCFICGIGSDYFDTTPH>G<FETHTLEEHNLANYMFFLMYLINKDETEHT5005
RYR3RDQQEQVREDMETKCFICGIGNDYFDTTPH>G<FETHTLQEHNLANYLFFLMYLINKDETEHT4837
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G4904Dc.14711G>A Other Cardiac PhenotypeSIFT:
Polyphen:
ReportsOther Cardiac Phenotype Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders. Hum Genomics. 2016 10(1):24. doi: 10.1186/s40246-016-0080-4. 27353043
p.Gly4904Aspc.14711G>A UnknownSIFT:
Polyphen: