No paralogue variants have been mapped to residue 2145 for RYR2.
RYR2 | DTINLLASLGQIRSLLSVRMGKEEEKLMIR>G<LGDIMNNKVFYQHPNLMRALGMHETVMEVM | 2175 |
RYR1 | DTMSLLECLGQIRSLLIVQMGPQEENLMIQ>S<IGNIMNNKVFYQHPNLMRALGMHETVMEVM | 2211 |
RYR3 | DTINLLAALGQIRSLLSVRMGKEEELLMIN>G<LGDIMNNKVFYQHPNLMRVLGMHETVMEVM | 2073 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G2145R | c.6433G>C | Putative Benign | SIFT: Polyphen: |