No paralogue variants have been mapped to residue 207 for RYR1.
RYR1 | RYLHLSTASGELQVDASFMQTLWNMNPICS>R<--CEEGFVTGGHVLRLFHGHMDECLTISPA | 235 |
RYR2 | RYLHLSYGNGSLHVDAAFQQTLWSVAPISS>G<SEAAQGYLIGGDVLRLLHGHMDECLTVPSG | 250 |
RYR3 | RYLHLSVSNGNIQVDASFMQTLWNVHPTCS>G<SSIEEGYLLGGHVVRLFHGH-DECLTIPST | 239 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R207C | c.619C>T | Putative Benign | SIFT: Polyphen: | ||
p.R207L | c.620G>T | Putative Benign | SIFT: Polyphen: | ||
p.R207H | c.620G>A | Putative Benign | SIFT: Polyphen: |