No paralogue variants have been mapped to residue 3989 for RYR1.
RYR1 | QVFNSLTEYIQGPCTGNQQSLAHSRLWDAV>V<GFLHVFAHMMMKLAQDSSQIELLKELLDLQ | 4019 |
RYR2 | QVFNTLTEYIQGPCTGNQQSLAHSRLWDAV>V<GFLHVFAHMQMKLSQDSSQIELLKELMDLQ | 3975 |
RYR3 | QIFNSLTEYIQGPCIGNQQSLAHSRLWDAV>V<GFLHVFANMQMKLSQDSSQIELLKELLDLL | 3871 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V3989M | c.11965G>A | Putative Benign | SIFT: Polyphen: |