No paralogue variants have been mapped to residue 4412 for RYR1.
RYR1 | GMPDPTSDEVHGEQPAGPGGDADGEGASEG>A<GDAAEGAGDEEEAVHEAGPGGADGAVAVTD | 4442 |
RYR2 | NMPDPTQDEVRGDGEEGERKP-LEAALPSE>D<LTDLKELTEESDLLSD-----IFGLDLKRE | 4387 |
RYR3 | DMPDPTQFGIHDDTMEAERAEVMEPGITTE>L<VHFIKGEKGDTDIMSD-----LFGLHPKKE | 4289 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A4412T | c.13234G>A | Putative Benign | SIFT: Polyphen: |