No paralogue variants have been mapped to residue 3867 for RYR1.
RYR1 | TCSVLDLNAFERQNKAEGLGMVNEDGTVIN>R<QNGEKVMADDEFTQDLFRFLQLLCEGHNND | 3897 |
RYR2 | SCSVLDLNAFERQNKAEGLGMVTEEGS--->-<--GEKVLQDDEFTCDLFRFLQLLCEGHNSD | 3853 |
RYR3 | SCSVLDLNAFERQNKAEGLGMVTEEGTLIV>R<ERGEKVLQNDEFTRDLFRFLQLLCEGHNSD | 3749 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R3867C | c.11599C>T | Putative Benign | rs138593495 | SIFT: Polyphen: benign | |
p.R3867H | c.11600G>A | Putative Benign | SIFT: Polyphen: |