Paralogue Annotation for RYR1 residue 1454

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1454
Reference Amino Acid: P - Proline
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1454

No paralogue variants have been mapped to residue 1454 for RYR1.



RYR1EIILNTTTYYYSVRVFAGQEPSCVWAGWVT>P<DYHQHDMSFDLSKVRVVTVTMGDEQGNVHS1484
RYR2FLMQT-STYYYSVRIFPGQEPANVWVGWIT>S<DFHQYDTGFDLDRVRTVTVTLGDEKGKVHE1478
RYR3ILSHTTTQCYYAIRIFAGQDPSCVWVGWVT>P<DYHLYSEKFDLNKNCTVTVTLGDERGRVHE1380
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P1454Lc.4361C>T Putative BenignSIFT:
Polyphen: probably damaging