No paralogue variants have been mapped to residue 3122 for RYR2.
RYR2 | QIINYTTVALLPMLSSLFEHIGQHQFGEDL>I<LEDVQVSCYRILTSLYALGTSKSIYVERQR | 3152 |
RYR1 | QNLTYTTVALLPVLTTLFQHIAQHQFGDDV>I<LDDVQVSCYRTLCSIYSLGTTKNTYVEKLR | 3187 |
RYR3 | QNINYTTVALLPILTSIFEHVTQHQFGMDL>L<LGDVQISCYHILCSLYSLGTGKNIYVERQR | 3048 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I3122L | c.9364A>C | Putative Benign | SIFT: Polyphen: |