Paralogue Annotation for RYR1 residue 1719

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1719
Reference Amino Acid: L - Leucine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1719

No paralogue variants have been mapped to residue 1719 for RYR1.



RYR1DQAQLLHALEDAHLPGPLRAGYYDLLISIH>L<ESACRSRRSMLSEYIVPLTPETRAITLFPP1749
RYR2DEPQLLYAIENKYMPGLLRAGYYDLLIDIH>L<SSYATARLMMNNEYIVPMTEETKSITLFPD1741
RYR3DLSQLFYAIDNKYLPGLLRSGFYDLLISIH>L<ASAKERKLMMKNEYIIPITSTTRNIRLFPD1645
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L1719Ic.5155C>A Putative BenignSIFT:
Polyphen: