No paralogue variants have been mapped to residue 3519 for RYR2.
RYR2 | IALAKNRFSLKDTEDEVRDIIRSNIHLQGK>L<E-DPAIRWQMALYKDLPNRTDDTSDPEKTV | 3548 |
RYR1 | ITLAKTRYALKDTDEEVREFLHNNLHLQGK>V<EGSPSLRWQMALYRGVPGREEDADDPEKIV | 3593 |
RYR3 | ISLAKSRYSHRDTDEEVREHLRNNLHLQEK>S<D-DPAVKWQLNLYKDVLK-SEEPFNPEKTV | 3448 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L3519F | c.10557G>T | Putative Benign | SIFT: tolerated Polyphen: benign |