From: Chanarin–Dorfman syndrome: clinical/genetic features and natural history in six Pakistani patients
Coding region | Amino acid substitution | SIFTa | Mutation tasterb | Polyphen-2c | PROVEANd | Mutation Assessore |
---|---|---|---|---|---|---|
c.338G > T | p.113G > V | Deleterious | Disease causing | Probably damaging Score (1.00) | − 8.685 | High functional (FI score 3.83) |
c.730_731insA | p.T244Nfs*10 | Deleterious | Disease causing | – | − 3.273 | Medium functional (FI score 2.125) |