No paralogue variants have been mapped to residue 4928 for RYR1.
RYR1 | IGDEIEDPAGDEYELYRVVFDITFFFFVIV>I<LLAIIQGLIIDAFGELRDQQEQVKEDMETK | 4958 |
RYR2 | IGDEIEDPAGDEYEIYRIIFDITFFFFVIV>I<LLAIIQGLIIDAFGELRDQQEQVKEDMETK | 4887 |
RYR3 | IGDEIEDPAGDPYEMYRIVFDITFFFFVIV>I<LLAIIQGLIIDAFGELRDQQEQVREDMETK | 4790 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I4928M | c.14784C>G | Putative Benign | SIFT: deleterious Polyphen: benign |