Paralogue Annotation for RYR2 residue 4125

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4125
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4125

No paralogue variants have been mapped to residue 4125 for RYR2.



RYR2GFNVAVLLTNLSEHMPNDTRLQTFLELAES>V<LNYFQPFLGRIEIMGSAKRIERVYFEISES4155
RYR1GFNVAVLLTNLSEHVPHDPRLHNFLELAES>I<LEYFRPYLGRIEIMGASRRIERIYFEISET4199
RYR3GFNVAVLLTNLSEHMPNDSRLKCLLDPAES>V<LNYFEPYLGRIEIMGGAKKIERVYFEISES4051
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V4125Ic.12373G>A Putative BenignSIFT:
Polyphen:
p.Val4125Phec.12373G>T UnknownSIFT:
Polyphen: