No paralogue variants have been mapped to residue 4194 for RYR1.
RYR1 | ELAESILEYFRPYLGRIEIMGASRRIERIY>F<EISETNRAQWEMPQVKESKRQFIFDVVNEG | 4224 |
RYR2 | ELAESVLNYFQPFLGRIEIMGSAKRIERVY>F<EISESSRTQWEKPQVKESKRQFIFDVVNEG | 4180 |
RYR3 | DPAESVLNYFEPYLGRIEIMGGAKKIERVY>F<EISESSRTQWEKPQVKESKRQFIFDVVNEG | 4076 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F4194L | c.12580T>C | 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 | |||
p.F4194L | c.12582C>G | Putative Benign | SIFT: Polyphen: |