No paralogue variants have been mapped to residue 1084 for RYR1.
RYR1 | DQEP-SQVEN-QSRCDRVRIFRAEKSYTVQ>S<GRWYFEFEAVTTGEMRVGWARPELRPDVEL | 1114 |
RYR2 | DQDHAARAEVCSGTGERFRIFRAEKTYAVK>A<GRWYFEFETVTAGDMRVGWSRPGCQPDQEL | 1128 |
RYR3 | DQEL-ADSAVEKVSIDKIRFFRVERSYAVR>S<GKWYFEFEVVTGGDMRVGWARPGCRPDVEL | 1114 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1084N | c.3251G>A | Putative Benign | SIFT: Polyphen: | ||
p.S1084R | c.3252C>A | Putative Benign | SIFT: Polyphen: |