No paralogue variants have been mapped to residue 205 for RYR1.
RYR1 | SERYLHLSTASGELQVDASFMQTLWNMNPI>C<SR--CEEGFVTGGHVLRLFHGHMDECLTIS | 233 |
RYR2 | SERYLHLSYGNGSLHVDAAFQQTLWSVAPI>S<SGSEAAQGYLIGGDVLRLLHGHMDECLTVP | 248 |
RYR3 | SERYLHLSVSNGNIQVDASFMQTLWNVHPT>C<SGSSIEEGYLLGGHVVRLFHGH-DECLTIP | 237 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.C205S | c.614G>C | Putative Benign | rs201834803 | SIFT: Polyphen: benign | |
p.C205R | c.613T>C | Putative Benign | SIFT: Polyphen: | ||
p.C205Y | c.614G>A | Putative Benign | SIFT: Polyphen: |