No paralogue variants have been mapped to residue 2577 for RYR1.
RYR1 | ALALNRYLCLAVLPLITKCAPLFAGTEHRA>I<MVDSMLHTVYRLSRGRSLTKAQRDVIEDCL | 2607 |
RYR2 | ALALNRYLCTAVLPLLTRCAPLFAGTEHHA>S<LIDSLLHTVYRLSKGCSLTKAQRDSIEVCL | 2573 |
RYR3 | ALALNRYICSAVLPLLTRCAPLFAGTEHCT>S<LIDSTLQTIYRLSKGRSLTKAQRDTIEECL | 2470 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I2577L | c.7729A>C | Putative Benign | SIFT: tolerated Polyphen: benign | ||
p.I2577V | c.7729A>G | Putative Benign | SIFT: Polyphen: |