No paralogue variants have been mapped to residue 4407 for RYR2.
RYR2 | --IFGLDLKREGGQYKLIPHNPNAGLSDLM>S<N-PVPMPE-V-QEKFQEQ--KA---KEEEK | 4429 |
RYR1 | GGADGAVAVTDGGPFRPEGAGGLGDMGDTT>P<AEPPTPEGSP-ILKRKLGVDGVEEELPPEP | 4491 |
RYR3 | --LFGLHPKKEGS-LKHGPEVGLGDLSEII>G<KDEPPTLESTVQKKRKA---QA---AEMKA | 4332 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S4407N | c.13220G>A | Putative Benign | SIFT: tolerated Polyphen: benign |