No paralogue variants have been mapped to residue 4175 for RYR1.
RYR1 | LLTNLSEHVPHDPRLHNFLELAESILEYFR>P<YLGRIEIMGASRRIERIYFEISETNRAQWE | 4205 |
RYR2 | LLTNLSEHMPNDTRLQTFLELAESVLNYFQ>P<FLGRIEIMGSAKRIERVYFEISESSRTQWE | 4161 |
RYR3 | LLTNLSEHMPNDSRLKCLLDPAESVLNYFE>P<YLGRIEIMGGAKKIERVYFEISESSRTQWE | 4057 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P4175A | c.12523C>G | Putative Benign | SIFT: Polyphen: |