Protein Variants | Comment | Organism |
---|---|---|
A207D | the mutation is associated with the occurrence of steroid 5alpha-reductase deficiency | Homo sapiens |
C133G | the mutation is associated with the occurrence of steroid 5alpha-reductase deficiency | Homo sapiens |
G196S | the mutation is associated with the occurrence of steroid 5alpha-reductase deficiency | Homo sapiens |
G34W | the mutation is associated with the occurrence of steroid 5alpha-reductase deficiency | Homo sapiens |
W53X | the nonsense mutation is associated with the occurrence of steroid 5alpha-reductase deficiency | Homo sapiens |
Y235F | the mutation is associated with the occurrence of steroid 5alpha-reductase deficiency | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
blood | - |
Homo sapiens | - |
leukocyte | - |
Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
5alpha-R | - |
Homo sapiens |
steroid 5alpha-reductase type 2 | - |
Homo sapiens |