Paralogue Annotation for RYR2 residue 4101

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4101
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4101

No paralogue variants have been mapped to residue 4101 for RYR2.



RYR2ETDENETLDYEEFVKRFHEPAKDIGFNVAV>L<LTNLSEHMPNDTRLQTFLELAESVLNYFQP4131
RYR1EADENEMINCEEFANRFQEPARDIGFNVAV>L<LTNLSEHVPHDPRLHNFLELAESILEYFRP4175
RYR3EADENDMFNYVDFVDRFHEPAKDIGFNVAV>L<LTNLSEHMPNDSRLKCLLDPAESVLNYFEP4027
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Leu4101Phec.12301C>T UnknownSIFT:
Polyphen: