No paralogue variants have been mapped to residue 4375 for RYR1.
RYR1 | AAGAGAAAGALGLLWGSLFGGGLVEGAKKV>T<VTELLAGMPDPTSDEVHGEQPAGPGGDADG | 4405 |
RYR2 | HFVASVFRGFFRIICSLLLGGSLVEGAKKI>K<VAELLANMPDPTQDEVRGDGEEGERKP-LE | 4355 |
RYR3 | QLLFTILGGIFQILWSTVFGGGLVEGAKNI>R<VTKILGDMPDPTQFGIHDDTMEAERAEVME | 4257 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T4375M | c.13124C>T | Putative Benign | SIFT: tolerated Polyphen: |