Paralogue Annotation for RYR1 residue 4488

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4488
Reference Amino Acid: P - Proline
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4488

No paralogue variants have been mapped to residue 4488 for RYR1.



RYR1DTTPAEPPTPEGSP-ILKRKLGVDGVEEEL>P<PEPEPEPEPELEPEKADAENGEKEEVPEPT4518
RYR2DLMSN-PVPMPE-V-QEKFQEQ--KA---K>E<EEKEEKEETKSEPEKAEGEDGEKEEKAKED4456
RYR3EIIGKDEPPTLESTVQKKRKA---QA---A>E<MKAANEAEGKVESEKADMEDGEKEDKDKEE4359
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P4488Lc.13463C>T Putative BenignSIFT:
Polyphen:
p.P4488Sc.13462C>T Putative BenignSIFT: tolerated
Polyphen: