| PDB ID | 2AOW
|
CHAIN | A |
|---|---|---|---|
| Protein name | Histamine N-methyltransferase | ||
| Uniprot Accession | P50135 | ||
| The number of similar proteins | 7 | ||
| The number of binding states | 1 | ||
| The number of binding partners | 0 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 2AOW (CHAIN: A) | |
| 1 | Monomeric state |
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 | |
|---|---|---|---|---|---|---|---|
| 7_SER | ASN |
8.3kJPN chr2:138722081 |
rs1391310698
|
- | 0.0002 | - | |
| 50_THR | ILE |
gnomAD chr2:138727746 |
rs199629619
|
- | 0.000145351 | - | |
| 60_GLY | ASP | VAR_076312 |
rs758252808
|
LP/P | - | Intellectual developmental disorder, autosomal recessive 51 (MRT51) [MIM:616739] | |
| 60_GLY | ASP |
ClinVar chr2:138727776 |
rs758252808
|
Pathogenic | - | Intellectual disability, autosomal recessive 51 [MONDO:MONDO:0014759,MedGen:C4225220,OMIM:616739,Orphanet:88616] | |
| 66_ILE | ASN |
8.3kJPN chr2:138758494 |
-
|
- | 0.0001 | - | |
| 76_ALA | VAL |
gnomAD chr2:138758524 |
rs142186887
|
- | 0.000365485 | - | |
| 76_ALA | VAL |
8.3kJPN chr2:138758524 |
rs142186887
|
- | 0.0006 | - | |
| 80_GLY | GLU |
8.3kJPN chr2:138758536 |
-
|
- | 0.0001 | - | |
| 82_CYS | TYR |
gnomAD chr2:138758542 |
rs146100323
|
- | 0.000194701 | - | |
| 105_THR | ILE |
gnomAD chr2:138759649 |
rs11558538
|
- | 0.099803 | - | |
| 105_THR | ILE |
8.3kJPN chr2:138759649 |
rs11558538
|
- | 0.0529 | - | |
| 106_SER | LEU |
gnomAD chr2:138759652 |
rs755441595
|
- | 0.000101893 | - | |
| 107_ASN | ASP |
8.3kJPN chr2:138759654 |
-
|
- | 0.0004 | - | |
| 109_GLU | LYS |
gnomAD chr2:138759660 |
rs528223406
|
- | 0.000543783 | - | |
| 112_LYS | GLU |
8.3kJPN chr2:138759669 |
-
|
- | 0.0001 | - | |
| 189_ARG | HIS |
8.3kJPN chr2:138771387 |
rs1299405673
|
- | 0.0001 | - | |
| 207_MET | ILE |
8.3kJPN chr2:138771442 |
-
|
- | 0.0001 | - | |
| 208_LEU | PRO | VAR_076313 |
rs745756308
|
LP/P | - | Intellectual developmental disorder, autosomal recessive 51 (MRT51) [MIM:616739] | |
| 208_LEU | PRO |
ClinVar chr2:138771444 |
rs745756308
|
Pathogenic/Likely pathogenic | - | Intellectual disability, autosomal recessive 51 [MONDO:MONDO:0014759,MedGen:C4225220,OMIM:616739,Orphanet:88616] | |
| 215_TYR | HIS |
8.3kJPN chr2:138771464 |
rs1281423343
|
- | 0.0001 | - | |
| 224_MET | LYS |
8.3kJPN chr2:138771492 |
-
|
- | 0.0001 | - | |
| 224_MET | ILE |
8.3kJPN chr2:138771493 |
-
|
- | 0.0001 | - | |
| 225_ASP | VAL |
8.3kJPN chr2:138771495 |
-
|
- | 0.0001 | - | |
| 269_PRO | ALA |
8.3kJPN chr2:138771626 |
-
|
- | 0.0001 | - | |
| 270_GLU | ALA |
gnomAD chr2:138771630 |
rs201105511
|
- | 0.000418894 | - | |
| 271_PHE | LEU |
8.3kJPN chr2:138771634 |
-
|
- | 0.0001 | - | |
| 288_ILE | THR |
gnomAD chr2:138771684 |
rs113138471
|
- | 0.000149286 | - |