EC Number   |
Protein Variants |
Reference |
|---|
   1.3.99.5 | A207D |
the mutation is associated with the occurrence of steroid 5alpha-reductase deficiency |
687319 |
| 1.3.99.5 | A49T |
naturally occuring mutation of isoform 2, associated with significantly higher sperm concentration than wild-type |
668960 |
| 1.3.99.5 | A49T |
naturally occuring mutation, the mutation is associated with a higher pTNM stage and and elevated Gleason grade. The allelic frequencies of the A49T variant, with 33% controls and 45% prostate cancer cases, are the highest reported worldwide. The polymorphism influences the risk of developing prostate cancer |
711658 |
| 1.3.99.5 | A49T |
the mutation is likely to have a contribution to prostate cancer development |
740982 |
| 1.3.99.5 | C133G |
the mutation is associated with the occurrence of steroid 5alpha-reductase deficiency |
687319 |
| 1.3.99.5 | G196S |
the mutation is associated with the occurrence of steroid 5alpha-reductase deficiency |
687319 |
| 1.3.99.5 | G203S |
naturally occuring mutation of SRD5A2 involved in the SRD deficiency syndrome |
712124 |
| 1.3.99.5 | G34W |
the mutation is associated with the occurrence of steroid 5alpha-reductase deficiency |
687319 |
| 1.3.99.5 | more |
detection of mutations of gene SRD5A2 of Korean SRD deficiency patients: p.Q6X located in exon 1, p.G203S and c.655delT both located in exon 4, and p.R246Q located in exon 5, which is the most frequently identified mutation, and c.655delT specifically found in Korean patients, overview. 5alpha-Reductase type 2 deficiency, caused by mutations in the SRD5A2 gene, leads to an autosomal recessive disorder of sex differentiation, DSD, in 46,XY individuals. The phenotypes of newborn 46,XY DSD with partial androgen insensitivity syndrome or 17beta-hydroxysteroid dehydrogenase deficiency may be indistinguishable from the phenotype of 5alpha-reductase type 2 deficiency |
712124 |
| 1.3.99.5 | more |
two Korean sisters with male pseudohermaphroditism, showing a homozygous deletion of the thymine at nucleotide position c.655, leading to a frameshift mutation predicted to result in abnormally long protein with an extended termination signal |
668682 |
