No paralogue variants have been mapped to residue 4117 for RYR1.
RYR1 | ISKKDFQKAMDSQKQFSGPEIQFLLSCSEA>D<ENEMINCEEFANRFQEPARDIGFNVAVLLT | 4147 |
RYR2 | ISKRDFHKAMESHKHYTQSETEFLLSCAET>D<ENETLDYEEFVKRFHEPAKDIGFNVAVLLT | 4103 |
RYR3 | ISKKEFQKAMEGQKQYTQSEIDFLLSCAEA>D<ENDMFNYVDFVDRFHEPAKDIGFNVAVLLT | 3999 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D4117N | c.12349G>A | Putative Benign | SIFT: Polyphen: | ||
p.D4117V | c.12350A>T | Putative Benign | SIFT: Polyphen: |