No paralogue variants have been mapped to residue 248 for RYR2.
RYR2 | SSGSEAAQGYLIGGDVLRLLHGHMDECLTV>P<SGEHGEEQRRTVHYEGGAVSVHARSLWRLE | 278 |
RYR1 | CSR--CEEGFVTGGHVLRLFHGHMDECLTI>S<PAD-SDDQRRLVYYEGGAVCTHARSLWRLE | 262 |
RYR3 | CSGSSIEEGYLLGGHVVRLFHGH-DECLTI>P<STDQNDSQHRRIFYEAGGAGTRARSLWRVE | 267 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P248S | c.742C>T | Putative Benign | SIFT: Polyphen: |