No paralogue variants have been mapped to residue 2144 for RYR2.
RYR2 | EDTINLLASLGQIRSLLSVRMGKEEEKLMI>R<GLGDIMNNKVFYQHPNLMRALGMHETVMEV | 2174 |
RYR1 | EDTMSLLECLGQIRSLLIVQMGPQEENLMI>Q<SIGNIMNNKVFYQHPNLMRALGMHETVMEV | 2210 |
RYR3 | SDTINLLAALGQIRSLLSVRMGKEEELLMI>N<GLGDIMNNKVFYQHPNLMRVLGMHETVMEV | 2072 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2144C | c.6430C>T | Putative Benign | SIFT: Polyphen: |