No paralogue variants have been mapped to residue 3402 for RYR1.
RYR1 | VVSEEEQLRLEAKAEAQEGELLVRDEFSVL>C<RDLYALYPLLIRYVDNNRAQWLTEPNPSAE | 3432 |
RYR2 | VVSEEDHLKAEARGDMSEAELLILDEFTTL>A<RDLYAFYPLLIRFVDYNRAKWLKEPNPEAE | 3393 |
RYR3 | TVQEEEQLKADGKGDTQEAELLILDEFAVL>C<RDLYAFYPMLIRYVDNNRSNWLKSPDADSD | 3289 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.C3402G | c.10204T>G | Other Myopathy | rs367543058 | SIFT: Polyphen: | |
Reports | Other Myopathy | Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Hum Mutat. 2010 31(7):E1544-50. 20583297 | |||
Unknown | 20301436 | ||||
p.C3402F | c.10205G>T | Putative Benign | SIFT: Polyphen: |