No paralogue variants have been mapped to residue 3332 for RYR2.
RYR2 | FSQPIINKVKPQLLKTHFLPLMEKLKKKAA>T<VVSEEDHLKAEARGDMSEAELLILDEFTTL | 3362 |
RYR1 | FAQPIVSRARPELLQSHFIPTIGRLRKRAG>K<VVSEEEQLRLEAKAEAQEGELLVRDEFSVL | 3401 |
RYR3 | YAQPIISKARPDLLRSHFIPTLEKLKKKAV>K<TVQEEEQLKADGKGDTQEAELLILDEFAVL | 3258 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T3332M | c.9995C>T | Putative Benign | SIFT: Polyphen: |