No paralogue variants have been mapped to residue 4400 for RYR2.
RYR2 | LLSD-----IFGLDLKREGGQYKLIPHNPN>A<GLSDLMSN-PVPMPE-V-QEKFQEQ--KA- | 4424 |
RYR1 | AVHEAGPGGADGAVAVTDGGPFRPEGAGGL>G<DMGDTTPAEPPTPEGSP-ILKRKLGVDGVE | 4484 |
RYR3 | IMSD-----LFGLHPKKEGS-LKHGPEVGL>G<DLSEIIGKDEPPTLESTVQKKRKA---QA- | 4327 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A4400S | c.13198G>T | Putative Benign | SIFT: Polyphen: |