No paralogue variants have been mapped to residue 3072 for RYR2.
RYR2 | ARTVMKTGLESVKSALRAFLDNAAEDLEKT>M<ENLKQGQFTHTRNQPKGVTQIINYTTVALL | 3102 |
RYR1 | ARTVMKSGPEIVKAGLRSFFESASEDIEKM>V<ENLRLGKVSQARTQVKGVGQNLTYTTVALL | 3137 |
RYR3 | TRTVMKSGSELVKAGLRAFFENAAEDLEKT>S<ENLKLGKFTHSRTQIKGVSQNINYTTVALL | 2998 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M3072V | c.9214A>G | Putative Benign | SIFT: Polyphen: |