No paralogue variants have been mapped to residue 4846 for RYR1.
RYR1 | DIAMGVKTLRTILSSVTHNGKQLVMTVGLL>A<VVVYLYTVVAFNFFRKFYNKSEDEDEPDMK | 4876 |
RYR2 | DIAMGFKTLRTILSSVTHNGKQLVLTVGLL>A<VVVYLYTVVAFNFFRKFYNKSEDGDTPDMK | 4805 |
RYR3 | DIAMGFKTLRTILSSVTHNGKQLVLTVGLL>A<VVVYLYTVVAFNFFRKFYNKSEDDDEPDMK | 4708 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A4846V | c.14537C>T | Other Myopathy | rs118192143 | SIFT: Polyphen: | |
Reports | Other Myopathy | Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1. Clin Genet. 2007 71(1):93-4. 17204054 | |||
Unknown | Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146 | ||||
p.A4846G | c.14537C>G | Putative Benign | SIFT: Polyphen: |