No paralogue variants have been mapped to residue 4234 for RYR1.
RYR1 | WEMPQVKESKRQFIFDVVNEGGEAEKMELF>V<SFCEDTIFEMQIAAQISEPEGEPETDEDEG | 4264 |
RYR2 | WEKPQVKESKRQFIFDVVNEGGEKEKMELF>V<NFCEDTIFEMQLAAQISESDLNERSANKEE | 4220 |
RYR3 | WEKPQVKESKRQFIFDVVNEGGEQEKMELF>V<NFCEDTIFEMQLASQISESDSADRPEEEEE | 4116 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V4234L | c.12700G>C | Other Myopathy | rs193922852 | SIFT: Polyphen: | |
Reports | Other Myopathy | Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region. Cell Calcium. 2002 32(3):143-51. 12208234 | |||
p.V4234L | c.12700G>T | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families. Anesthesiology. 2013 119(5):1054-65. doi: 10.1097/ALN.0b013e3182a8a998. 24013571 |