No paralogue variants have been mapped to residue 1079 for RYR1.
RYR1 | NIEPPDQEP-SQVEN-QSRCDRVRIFRAEK>S<YTVQSGRWYFEFEAVTTGEMRVGWARPELR | 1109 |
RYR2 | NLEAPDQDHAARAEVCSGTGERFRIFRAEK>T<YAVKAGRWYFEFETVTAGDMRVGWSRPGCQ | 1123 |
RYR3 | NIEPSDQEL-ADSAVEKVSIDKIRFFRVER>S<YAVRSGKWYFEFEVVTGGDMRVGWARPGCR | 1109 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1079C | c.3236C>G | Putative Benign | SIFT: Polyphen: |