Paralogue Annotation for RYR1 residue 4448

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4448
Reference Amino Acid: P - Proline
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4448

No paralogue variants have been mapped to residue 4448 for RYR1.



RYR1GAGDEEEAVHEAGPGGADGAVAVTDGGPFR>P<EGAGGLGDMGDTTPAEPPTPEGSP-ILKRK4477
RYR2ELTEESDLLSD-----IFGLDLKREGGQYK>L<IPHNPNAGLSDLMSN-PVPMPE-V-QEKFQ4420
RYR3GEKGDTDIMSD-----LFGLHPKKEGS-LK>H<GPEVGLGDLSEIIGKDEPPTLESTVQKKRK4324
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Pro4448Serc.13342C>T UnknownSIFT:
Polyphen: