No paralogue variants have been mapped to residue 213 for RYR1.
RYR1 | SGELQVDASFMQTLWNMNPICSR--CEEGF>V<TGGHVLRLFHGHMDECLTISPAD-SDDQRR | 242 |
RYR2 | NGSLHVDAAFQQTLWSVAPISSGSEAAQGY>L<IGGDVLRLLHGHMDECLTVPSGEHGEEQRR | 258 |
RYR3 | NGNIQVDASFMQTLWNVHPTCSGSSIEEGY>L<LGGHVVRLFHGH-DECLTIPSTDQNDSQHR | 247 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V213M | c.637G>A | Putative Benign | SIFT: Polyphen: |