EC Number   |
Protein Variants |
Reference |
|---|
    2.4.1.142 | C396Y |
the mutation is associated with congenital disorders of glycosylation |
722929 |
| 2.4.1.142 | D429E |
patient with congenital disorder of glycosylation is compound heterozygous for three mutations in the ALG1 gene, leading to the amino acid substitutions S150R and D429E on one allele and S258L on the other. The detrimental effect of these mutations on ALG1 protein function is demonstrated in a complementation assay. This novel type of congenital disorder of glycosylation should be reffered to as CDG-Ik |
658878 |
| 2.4.1.142 | E342L |
mutation in the semiconserved regions of the HMT-1 gene causes drastically reduced enzyme activity, leading to a severe disease with death in early infancy |
657506 |
| 2.4.1.142 | G145D |
the mutation is associated with congenital disorders of glycosylation |
722929 |
| 2.4.1.142 | K35A/K38A/K39A/R40A/V106I/M109L/V110I/V113I/V117I/I120L |
site-directed mutagenesis, hydrophobic mut6 substitution of truncation mutant Alg1DELTA32 with additional mutations K35A, K38A, K39A, R40A. The mutant shows slower growth and decreased protein amount in membrane fraction compared to mutant Alg1NDELTA32-mut6A |
-, 759312 |
| 2.4.1.142 | M377V |
the mutation is associated with congenital disorders of glycosylation |
722929 |
| 2.4.1.142 | more |
chemo-enzymatic synthesis of lipid-linked GlcNAc2Man5 oligosaccharides using recombinant Alg1, Alg2 (from human, EC 2.4.1.257), and Alg11 (from yeast, EC 2.4.1.131) proteins, chemo-enzymatic synthesis strategy to extend the glycan moiety of synthetic LLO analogues to Dol-PP-GlcNAc2Man5, method, overview |
-, 759307 |
| 2.4.1.142 | more |
deletion of the first 32 (alg1NDELTA32), 40 (alg1NDELTA40) or 50 (alg1NDELTA50) amino acids of Alg1p. Alg1NDELTA32 protein lacks the predicted N-terminal transmembrane domain, and further deletion of additional eight amino acids, including four positively charged residues, results in Alg1NDELTA40. Moreover, in Alg1NDELTA50, the first beta-sheet of Alg1 is completely eliminated. Mutant alg1NDELTA50 fails to rescue cell growth at the 30°C. Cells expressing alg1NDELTA32 show normal growth, similar to those expressing full-length Alg1, at normal temperature of 30°C and also relatively similar protein expression level. However, when the temperature is raised to 37°C, alg1NDELTA32-expressing cells show an obvious growth defect. The alg1NDELTA40-expressing cells exhibit a similar growth state as wild-type Alg1-expressing cells at 30°C, but partially affected growth at 37°C. Alg1NDELTA40 associates with the endoplasmic reticulum membrane in a nonperipheral manner, as does wild-type Alg1 |
-, 759312 |
| 2.4.1.142 | more |
genotyping 10 single nucleotide polymorphisms from gene ALG1 are identified using the Japanese case-control sample (1808 schizophrenics and 2170 matched controls). Genotype-phenotype correlation analysis in schizophrenia patients, overview |
760034 |
| 2.4.1.142 | more |
the molecular nature of severe multisystemic disorder with a recurrent nonimmune hydrops fetalis is identified as deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase caused by the C773T transition |
657505 |
