No paralogue variants have been mapped to residue 4412 for RYR2.
RYR2 | DLKREGGQYKLIPHNPNAGLSDLMSN-PVP>M<PE-V-QEKFQEQ--KA---KEEEKEEKEET | 4435 |
RYR1 | VAVTDGGPFRPEGAGGLGDMGDTTPAEPPT>P<EGSP-ILKRKLGVDGVEEELPPEPEPEPEP | 4497 |
RYR3 | HPKKEGS-LKHGPEVGLGDLSEIIGKDEPP>T<LESTVQKKRKA---QA---AEMKAANEAEG | 4338 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M4412K | c.13235T>A | Putative Benign | SIFT: Polyphen: benign |