EC Number |
Protein Variants |
Reference |
---|
2.7.7.10 | A320T |
the mutation causes classical galactosemia |
673113 |
2.7.7.10 | IVS5nt-24G>A |
higher risk of catarct for individuals |
697365 |
2.7.7.10 | K285N |
higher risk of catarct for individuals |
697365 |
2.7.7.10 | K285N |
the mutation causes classical galactosemia |
673113 |
2.7.7.10 | L218L |
higher risk of catarct for individuals |
697365 |
2.7.7.10 | more |
construction of deletion mutant mice, in the urine of GALT-deleted mice, despite the absence of GALT enzyme, the acetaminophen glucuronide anomeric carbon clearly shows enrichment, though of lesser intensity than in the normal controls |
-, 676036 |
2.7.7.10 | N314D |
higher risk of catarct for individuals |
697365 |
2.7.7.10 | Q1883 |
higher risk of catarct for individuals |
697365 |
2.7.7.10 | Q188R |
the mutation causes classical galactosemia |
673113 |
2.7.7.10 | S135L |
the mutation causes classical galactosemia |
673113 |