No paralogue variants have been mapped to residue 3727 for RYR1.
RYR1 | PLHQLVLHFSRTALTEKSKLDEDYLYMAYA>D<IMAKSCHLEEGGENGEAEEEVEVSFEEKQM | 3757 |
RYR2 | PLHQLILLFSRTALTEKCKLEEDFLYMAYA>D<IMAKSCHDEED-D--DGEEE-VKSFEEKEM | 3719 |
RYR3 | PLHQIILYFSRNALTERSKLEDDPLYTSYS>S<MMAKSCQSGED-E--EEDEDKEKTFEEKEM | 3609 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D3727H | c.11179G>C | Putative Benign | SIFT: deleterious Polyphen: benign | ||
p.D3727G | c.11180A>G | Putative Benign | SIFT: Polyphen: |