Protein Variants | Comment | Organism |
---|---|---|
E288K | mutation isolated in patient with severe form of Smith-Lemli-Opitz syndrome, carrying additional heterozygous mutation I251N | Homo sapiens |
I251N | mutation isolated in patient with severe form of Smith-Lemli-Opitz syndrome, carrying additional heterozygous mutation E288K | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q9UBM7 | patient with Smith-Lemli-Opitz syndrome | - |