No paralogue variants have been mapped to residue 1078 for RYR1.
RYR1 | YNIEPPDQEP-SQVEN-QSRCDRVRIFRAE>K<SYTVQSGRWYFEFEAVTTGEMRVGWARPEL | 1108 |
RYR2 | YNLEAPDQDHAARAEVCSGTGERFRIFRAE>K<TYAVKAGRWYFEFETVTAGDMRVGWSRPGC | 1122 |
RYR3 | YNIEPSDQEL-ADSAVEKVSIDKIRFFRVE>R<SYAVRSGKWYFEFEVVTGGDMRVGWARPGC | 1108 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K1078T | c.3233A>C | Putative Benign | SIFT: Polyphen: |