No paralogue variants have been mapped to residue 1150 for RYR1.
RYR1 | AYVFNGHRGQRWHLGSEPFGRPWQPGDVVG>C<MIDLTENTIIFTLNGEVLMSDSGSETAFRE | 1180 |
RYR2 | AFAFDGFKAQRWHQGNEHYGRSWQAGDVVG>C<MVDMNEHTMMFTLNGEILLDDSGSELAFKD | 1194 |
RYR3 | AFVFEGNRGQRWHQGSGYFGRTWQPGDVVG>C<MINLDDASMIFTLNGELLITNKGSELAFAD | 1180 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.C1150Y | c.3449G>A | Other Disease Phenotype | SIFT: Polyphen: | ||
Reports | Other 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 |