No paralogue variants have been mapped to residue 4363 for RYR2.
RYR2 | MPDPTQDEVRGDGEEGERKP-LEAALPSED>L<TDLKELTEESDLLSD-----IFGLDLKREG | 4388 |
RYR1 | MPDPTSDEVHGEQPAGPGGDADGEGASEGA>G<DAAEGAGDEEEAVHEAGPGGADGAVAVTDG | 4443 |
RYR3 | MPDPTQFGIHDDTMEAERAEVMEPGITTEL>V<HFIKGEKGDTDIMSD-----LFGLHPKKEG | 4290 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L4363V | c.13087C>G | Putative Benign | SIFT: Polyphen: | ||
p.L4363P | c.13088T>C | Putative Benign | SIFT: Polyphen: |