EC Number   |
Protein Variants |
Reference |
|---|
   1.14.18.2 | D535N |
naturally occuring mutation, genotyping, overview |
746215 |
| 1.14.18.2 | E109D |
naturally occuring mutation, genotyping, overview |
746215 |
| 1.14.18.2 | G1266A |
naturally occuring silent mtation |
685822 |
| 1.14.18.2 | G139A |
naturally occuring missense mutation |
685822 |
| 1.14.18.2 | G1600A |
naturally occuring silent mtation |
685822 |
| 1.14.18.2 | G60V |
naturally occuring mutation, genotyping, overview |
746215 |
| 1.14.18.2 | I63V |
naturally occuring mutation, genotyping, overview |
746215 |
| 1.14.18.2 | more |
knockout of the expression of Hanganutziu-Deicher (H-D) antigens through the use of a CRISPR (clustered regulatory interspaced short palindromic repeat)/Cas9 system for pig cytidine monophospho-N-acetylneuraminic acid hydroxylase (CMAH). Pig endothelial cells (PECs) from an alpha-Gal knockout pig are used to examine the changes in the expression of the H-D antigen by the knockout of the CMAH genome by the pX330-gS01. Method, overview |
746539 |
| 1.14.18.2 | more |
mutations in type B cats likely disrupt the gene function of CMAH, leading to a predominance of NeuAc in blood types, genotyping, overview |
685822 |
| 1.14.18.2 | more |
naturally occuring truncated protein, lacking 46 amino acids in the middle of the normal full-length protein, causes a change in intracellular distribution of the enzyme from cytosol to endoplasmic reticulum and a loss in activity |
639328 |
