Paralogue Annotation for RYR1 residue 1523

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1523
Reference Amino Acid: T - Threonine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1523

No paralogue variants have been mapped to residue 1523 for RYR1.



RYR1MVWGGDFVSPGQQGRISHTDLVIGCLVDLA>T<GLMTFTANGKESNTFFQVEPNTKLFPAVFV1553
RYR2MVCAGESMSPGQ-G-RNNNGLEIGCVVDAA>S<GLLTFIANGKELSTYYQVEPSTKLFPAVFA1545
RYR3MVWGGDIVASSQRSNRSNVDLEIGCLVDLA>M<GMLSFSANGKELGTCYQVEPNTKVFPAVFL1449
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T1523Pc.4567A>C Other Disease PhenotypeSIFT:
Polyphen:
ReportsOther Disease Phenotype Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum. BMC Musculoskelet Disord. 2016 17:109. doi: 10.1186/s12891-016-0947-5. 26932181