No paralogue variants have been mapped to residue 4528 for RYR1.
RYR1 | ENGEKEEVPEPTPEPPKKQ---------AP>P<SPPPKKEEAGGEFWGELEVQRVKFLNYLSR | 4558 |
RYR2 | EDGEKEEKAKEDKGKQKLR--------QLH>T<HRYGEPEVPESAFWKKIIAYQQKLLNYFAR | 4497 |
RYR3 | EDGEKEDKDKEEEQAEYLWTEVTKKKKRRC>G<QKVEKPEAFTANFFKGLEIYQTKLLHYLAR | 4408 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P4528S | c.13582C>T | Putative Benign | SIFT: Polyphen: | ||
p.P4528L | c.13583C>T | Putative Benign | SIFT: Polyphen: |