Paralogue Annotation for RYR2 residue 4127

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4127
Reference Amino Acid: N - Asparagine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4127

No paralogue variants have been mapped to residue 4127 for RYR2.



RYR2NVAVLLTNLSEHMPNDTRLQTFLELAESVL>N<YFQPFLGRIEIMGSAKRIERVYFEISESSR4157
RYR1NVAVLLTNLSEHVPHDPRLHNFLELAESIL>E<YFRPYLGRIEIMGASRRIERIYFEISETNR4201
RYR3NVAVLLTNLSEHMPNDSRLKCLLDPAESVL>N<YFEPYLGRIEIMGGAKKIERVYFEISESSR4053
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Asn4127Hisc.12379A>C UnknownSIFT:
Polyphen: