No paralogue variants have been mapped to residue 4487 for RYR1.
RYR1 | GDTTPAEPPTPEGSP-ILKRKLGVDGVEEE>L<PPEPEPEPEPELEPEKADAENGEKEEVPEP | 4517 |
RYR2 | SDLMSN-PVPMPE-V-QEKFQEQ--KA--->K<EEEKEEKEETKSEPEKAEGEDGEKEEKAKE | 4455 |
RYR3 | SEIIGKDEPPTLESTVQKKRKA---QA--->A<EMKAANEAEGKVESEKADMEDGEKEDKDKE | 4358 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L4487F | c.13459C>T | Putative Benign | SIFT: Polyphen: |