No paralogue variants have been mapped to residue 3280 for RYR2.
RYR2 | PENNPE----RAEMCCTALNSEHMNTLLGN>I<LKIIYNNLGIDEGAWMKRLAVFSQPIINKV | 3310 |
RYR1 | PEAPPSALPAGAPPPCTAVTSDHLNSLLGN>I<LRIIVNNLGIDEASWMKRLAVFAQPIVSRA | 3349 |
RYR3 | PENLPP----STGPCCTKVTSEHLSLILGN>I<LKIINNNLGIDEASWMKRIAVYAQPIISKA | 3206 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I3280T | c.9839T>C | Putative Benign | SIFT: Polyphen: |