Paralogue Annotation for RYR1 residue 1780

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1780
Reference Amino Acid: P - Proline
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1780

No paralogue variants have been mapped to residue 1780 for RYR1.



RYR1GRSTENGHPRHGLPGVGVTTSLRPPHHFSP>P<CFVAALPAAGAAEAPARLSPAIPLEALRDK1810
RYR2------ENKKHGLPGIGLSTSLRPRMQFSS>P<SFVSI------SNECYQYSPEFPLDILKSK1790
RYR3------ESKRHGLPGVGLRTCLKPGFRFST>P<CFVVT------GEDHQKQSPEIPLESLRTK1694
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P1780Rc.5339C>G Putative BenignSIFT: tolerated
Polyphen: possibly damaging
p.P1780Lc.5339C>T Putative BenignSIFT:
Polyphen:
p.P1780Hc.5339C>A Putative BenignSIFT:
Polyphen: