No paralogue variants have been mapped to residue 4399 for RYR2.
RYR2 | DLLSD-----IFGLDLKREGGQYKLIPHNP>N<AGLSDLMSN-PVPMPE-V-QEKFQEQ--KA | 4424 |
RYR1 | EAVHEAGPGGADGAVAVTDGGPFRPEGAGG>L<GDMGDTTPAEPPTPEGSP-ILKRKLGVDGV | 4483 |
RYR3 | DIMSD-----LFGLHPKKEGS-LKHGPEVG>L<GDLSEIIGKDEPPTLESTVQKKRKA---QA | 4327 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N4399D | c.13195A>G | Putative Benign | SIFT: Polyphen: |