Paralogue Annotation for RYR1 residue 4451

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4451
Reference Amino Acid: A - Alanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4451

No paralogue variants have been mapped to residue 4451 for RYR1.



RYR1DEEEAVHEAGPGGADGAVAVTDGGPFRPEG>A<GGLGDMGDTTPAEPPTPEGSP-ILKRKLGV4480
RYR2EESDLLSD-----IFGLDLKREGGQYKLIP>H<NPNAGLSDLMSN-PVPMPE-V-QEKFQEQ-4422
RYR3GDTDIMSD-----LFGLHPKKEGS-LKHGP>E<VGLGDLSEIIGKDEPPTLESTVQKKRKA--4325
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Ala4451Aspc.13352C>A UnknownSIFT:
Polyphen: