No paralogue variants have been mapped to residue 4814 for RYR1.
RYR1 | IFTDNSFLYLGWYMVMSLLGHYNNFFFAAH>L<LDIAMGVKTLRTILSSVTHNGKQLVMTVGL | 4844 |
RYR2 | VFTDNSFLYLAWYMTMSVLGHYNNFFFAAH>L<LDIAMGFKTLRTILSSVTHNGKQLVLTVGL | 4773 |
RYR3 | VFTDNSFLYLAWYTTMSVLGHYNNFFFAAH>L<LDIAMGFKTLRTILSSVTHNGKQLVLTVGL | 4676 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L4814F | c.14440C>T | Other Myopathy | rs118192142 | 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 | |||
Unknown | Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146 |