No paralogue variants have been mapped to residue 4457 for RYR2.
RYR2 | EEKEEKEETKSEPEKAEGEDGEKEEKAKED>K<GKQKLR--------QLHTHRYGEPEVPESA | 4479 |
RYR1 | PEPEPEPEPELEPEKADAENGEKEEVPEPT>P<EPPKKQ---------APPSPPPKKEEAGGE | 4540 |
RYR3 | MKAANEAEGKVESEKADMEDGEKEDKDKEE>E<QAEYLWTEVTKKKKRRCGQKVEKPEAFTAN | 4390 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K4457R | c.13370A>G | Putative Benign | SIFT: Polyphen: | ||
p.K4457N | c.13371G>T | Putative Benign | SIFT: Polyphen: |