Paralogue Annotation for RYR1 residue 444

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 444
Reference Amino Acid: L - Leucine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 444

No paralogue variants have been mapped to residue 444 for RYR1.



RYR1IKSLDSFSGKPRGSGPPAGTALPIEGVILS>L<QDLIIYFEPPSEDLQHEEKQSKLRSLRNRQ474
RYR2IRGLDALSKKAKA----STVDLPIESVSLS>L<QDLIGYFHPPDEHLEHEDKQNRLRALKNRQ486
RYR3VSGN-----NRTA----APITLPIEEVLQT>L<QDLIAYFQPPEEEMRHEDKQNKLRSLKNRQ473
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L444Pc.1331T>C Putative Benignrs369620902SIFT: deleterious
Polyphen: probably damaging