Paralogue Annotation for RYR1 residue 1150

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1150
Reference Amino Acid: C - Cysteine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1150

No paralogue variants have been mapped to residue 1150 for RYR1.



RYR1AYVFNGHRGQRWHLGSEPFGRPWQPGDVVG>C<MIDLTENTIIFTLNGEVLMSDSGSETAFRE1180
RYR2AFAFDGFKAQRWHQGNEHYGRSWQAGDVVG>C<MVDMNEHTMMFTLNGEILLDDSGSELAFKD1194
RYR3AFVFEGNRGQRWHQGSGYFGRTWQPGDVVG>C<MINLDDASMIFTLNGELLITNKGSELAFAD1180
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.C1150Yc.3449G>A Other Disease PhenotypeSIFT:
Polyphen:
ReportsOther Disease Phenotype Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Hum Mol Genet. 2014 23(9):2279-89. doi: 10.1093/hmg/ddt618. 24319099