| PDB ID | 2HUZ
|
CHAIN | A |
|---|---|---|---|
| Protein name | Glucosamine 6-phosphate N-acetyltransferase | ||
| Uniprot Accession | Q96EK6 | ||
| The number of similar proteins | 7 | ||
| The number of binding states | 2 | ||
| The number of binding partners | 1 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
Downdload
Molecule viewer
|
Only interaction residues |
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Sequence information
|
Variants
| Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
|---|---|---|---|---|---|---|---|
| 15_LYS | ASN |
8.3kJPN chr14:53251324 |
-
|
- | 0.0001 | - | |
| 41_LEU | SER |
8.3kJPN chr14:53251247 |
-
|
- | 0.0001 | - | |
| 76_GLU | LYS | VAR_086302 |
-
|
LP/P | - | Rhizomelic dysplasia, Ain-Naz type (RHZDAN) [MIM:619598] | |
| 76_GLU | LYS |
ClinVar chr14:53248621 |
rs2139964469
|
Pathogenic | - | Rhizomelic dysplasia, Ain-Naz type [MONDO:MONDO:0859203,MedGen:C5562013,OMIM:619598] | |
| 140_THR | ILE |
8.3kJPN chr14:53245165 |
-
|
- | 0.0001 | - | |
| 148_LEU | MET |
8.3kJPN chr14:53245142 |
-
|
- | 0.0001 | - | |
| 156_GLU | TER |
8.3kJPN chr14:53245118 |
-
|
- | 0.0001 | - | |
| 166_LYS | GLU |
gnomAD chr14:53245088 |
rs540144040
|
- | 0.000772641 | - | |
| 168_PHE | VAL |
gnomAD chr14:53245082 |
rs192453247
|
- | 0.00021914 | - | |
| 168_PHE | VAL |
8.3kJPN chr14:53245082 |
rs192453247
|
- | 0.0009 | - |