Application | Comment | Organism |
---|---|---|
medicine | enzyme is associated with retinal dystrophy and encodes an enzyme with unique, nonredundant role in the photoreceptor cells | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
Q189X | mutation found in an individual affected by autosomal recessive childhood-onset severe retinal dystrophy | Homo sapiens |
R62X | mutation found in an individual affected by autosomal recessive childhood-onset severe retinal dystrophy | Homo sapiens |
T49M | mutation found in an individual affected by autosomal recessive childhood-onset severe retinal dystrophy | Homo sapiens |
Y226C | mutation present in all individuals affected by autosomal recessive childhood-onset severe retinal dystrophy from three Austrian kindreds, enzyme expressed in COS-7 cells shows diminished activity | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
Austrian kindreds with individuals affected by autosomal recessive childhood-onset severe retinal dystrophy | - |