No paralogue variants have been mapped to residue 4394 for RYR1.
RYR1 | GGGLVEGAKKVTVTELLAGMPDPTSDEVHG>E<QPAGPGGDADGEGASEGAGDAAEGAGDEEE | 4424 |
RYR2 | GGSLVEGAKKIKVAELLANMPDPTQDEVRG>D<GEEGERKP-LEAALPSEDLTDLKELTEESD | 4374 |
RYR3 | GGGLVEGAKNIRVTKILGDMPDPTQFGIHD>D<TMEAERAEVMEPGITTELVHFIKGEKGDTD | 4276 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4394K | c.13180G>A | Putative Benign | SIFT: Polyphen: |