No paralogue variants have been mapped to residue 2171 for RYR1.
RYR1 | AYTISPSSVEDTMSLLECLGQIRSLLIVQM>G<PQEENLMIQSIGNIMNNKVFYQHPNLMRAL | 2201 |
RYR2 | TYTINGVSVEDTINLLASLGQIRSLLSVRM>G<KEEEKLMIRGLGDIMNNKVFYQHPNLMRAL | 2165 |
RYR3 | TYTISHTSVSDTINLLAALGQIRSLLSVRM>G<KEEELLMINGLGDIMNNKVFYQHPNLMRVL | 2063 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G2171S | c.6511G>A | Putative Benign | SIFT: Polyphen: |