No paralogue variants have been mapped to residue 3099 for RYR2.
RYR2 | EKTMENLKQGQFTHTRNQPKGVTQIINYTT>V<ALLPMLSSLFEHIGQHQFGEDLILEDVQVS | 3129 |
RYR1 | EKMVENLRLGKVSQARTQVKGVGQNLTYTT>V<ALLPVLTTLFQHIAQHQFGDDVILDDVQVS | 3164 |
RYR3 | EKTSENLKLGKFTHSRTQIKGVSQNINYTT>V<ALLPILTSIFEHVTQHQFGMDLLLGDVQIS | 3025 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Val3099Leu | c.9295G>C | Unknown | SIFT: Polyphen: |