No paralogue variants have been mapped to residue 4488 for RYR1.
RYR1 | DTTPAEPPTPEGSP-ILKRKLGVDGVEEEL>P<PEPEPEPEPELEPEKADAENGEKEEVPEPT | 4518 |
RYR2 | DLMSN-PVPMPE-V-QEKFQEQ--KA---K>E<EEKEEKEETKSEPEKAEGEDGEKEEKAKED | 4456 |
RYR3 | EIIGKDEPPTLESTVQKKRKA---QA---A>E<MKAANEAEGKVESEKADMEDGEKEDKDKEE | 4359 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P4488L | c.13463C>T | Putative Benign | rs150318524 | SIFT: Polyphen: | |
p.P4488S | c.13462C>T | Putative Benign | SIFT: tolerated Polyphen: |