No paralogue variants have been mapped to residue 4824 for RYR1.
RYR1 | GWYMVMSLLGHYNNFFFAAHLLDIAMGVKT>L<RTILSSVTHNGKQLVMTVGLLAVVVYLYTV | 4854 |
RYR2 | AWYMTMSVLGHYNNFFFAAHLLDIAMGFKT>L<RTILSSVTHNGKQLVLTVGLLAVVVYLYTV | 4783 |
RYR3 | AWYTTMSVLGHYNNFFFAAHLLDIAMGFKT>L<RTILSSVTHNGKQLVLTVGLLAVVVYLYTV | 4686 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L4824P | c.14471T>C | Other Myopathy | rs193922874 | SIFT: Polyphen: | |
Reports | Other Myopathy | RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene. J Med Genet. 2004 41(3):e33. 14985404 |