| PDB ID | 2HAU
|
CHAIN | A |
|---|---|---|---|
| Protein name | Serotransferrin | ||
| Uniprot Accession | P02787 | ||
| The number of similar proteins | 26 | ||
| The number of binding states | 5 | ||
| The number of binding partners | 4 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 2HAU (CHAIN: A) | |
| 1 | Monomeric state |
| 2 |
Q09057
|
| 3 |
Q9K0U9
|
| 4 |
P02786
|
| 5 |
Q8WPU2
Q8WPU1
|
Downdload
Molecule viewer
|
Only interaction residues |
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Sequence information
|
Variants
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 21_SER | ASN |
gnomAD chr3:133467331 rs146477698 |
- | 0.000373805 | 0.0933 | - | |
| 23_ARG | LEU |
VAR_034569
rs41298293 |
LB/B | - | 0.252 | - | |
| 23_ARG | LEU |
gnomAD chr3:133467337 rs41298293 |
- | 0.00276379 | 0.252 | - | |
| 36_SER | ARG |
VAR_029280
rs8177318 |
LB/B | - | 0.0881 | - | |
| 36_SER | ARG |
gnomAD chr3:133467377 rs8177318 |
- | 0.000163054 | 0.0881 | - | |
| 57_ALA | VAL |
VAR_034570
rs41298977 |
LB/B | - | 0.2318 | - | |
| 57_ALA | VAL |
gnomAD chr3:133472449 rs41298977 |
- | 0.000433427 | 0.2318 | - | |
| 57_ALA | VAL |
8.3kJPN chr3:133472449 rs41298977 |
- | 0.0041 | 0.2318 | - | |
| 58_ASP | ASN |
VAR_038810
rs121918681 |
LP/P | - | 0.7586 | Atransferrinemia (ATRAF) [MIM:209300] | |
| 58_ASP | ASN |
ClinVar chr3:133472451 rs121918681 |
Pathogenic | - | 0.7586 | Atransferrinemia [Human Phenotype Ontology:HP:0012239,MONDO:MONDO:0008846,MedGen:C0521802,OMIM:209300,Orphanet:1195] | |
| 75_ASN | SER |
gnomAD chr3:133472503 rs200551981 |
- | 0.000441362 | 0.0926 | - | |
| 85_TYR | CYS |
8.3kJPN chr3:133472533 rs746672239 |
- | 0.001 | 0.3715 | - | |
| 123_GLY | SER |
VAR_011997
rs1799830 |
LB/B | - | 0.1953 | - | |
| 152_ASN | SER |
8.3kJPN chr3:133474216 - |
- | 0.0001 | 0.0524 | - | |
| 155_SER | LEU |
gnomAD chr3:133474225 rs150679929 |
- | 0.000774926 | 0.0998 | - | |
| 155_SER | LEU |
8.3kJPN chr3:133474225 rs150679929 |
- | 0.0016 | 0.0998 | - | |
| 159_ALA | VAL |
8.3kJPN chr3:133474237 rs752884982 |
- | 0.0001 | 0.0381 | - | |
| 165_THR | ALA |
gnomAD chr3:133474254 rs139768770 |
- | 0.00010439 | 0.059 | - | |
| 200_GLY | ARG |
8.3kJPN chr3:133475145 - |
- | 0.0001 | 0.9104 | - | |
| 232_ARG | GLN |
8.3kJPN chr3:133475735 rs972941728 |
- | 0.0001 | 0.2211 | - | |
| 258_GLY | SER |
VAR_011998
rs1799899 |
LB/B | - | 0.1284 | - | |
| 258_GLY | ASP |
ClinVar chr3:133475813 rs121918676 |
Pathogenic | - | 0.2268 | - [-] | |
| 258_GLY | SER |
gnomAD chr3:133475812 rs1799899 |
- | 0.0523667 | 0.1284 | - | |
| 277_ASP | GLY |
VAR_007544
rs8177238 |
LB/B | - | 0.0571 | - | |
| 277_ASP | GLY |
gnomAD chr3:133476629 rs8177238 |
- | 0.00288353 | 0.0571 | - | |
| 300_HIS | ARG |
VAR_007545
rs41295774 |
LB/B | - | 0.0668 | - | |
| 300_HIS | ARG |
gnomAD chr3:133476698 rs41295774 |
- | 0.00328851 | 0.0668 | - | |
| 300_HIS | ARG |
8.3kJPN chr3:133476698 rs41295774 |
- | 0.0064 | 0.0668 | - | |
| 324_ARG | TRP |
gnomAD chr3:133476769 rs150854910 |
- | 0.000843358 | 0.1616 | - | |
| 327_ARG | TRP |
8.3kJPN chr3:133476778 rs143019827 |
- | 0.0017 | 0.1631 | - | |
| 327_ARG | GLN |
8.3kJPN chr3:133476779 rs773827823 |
- | 0.0005 | 0.1062 | - | |
| 336_THR | LYS |
8.3kJPN chr3:133478034 rs773883338 |
- | 0.0001 | 0.0611 | - | |
| 350_HIS | ARG |
8.3kJPN chr3:133478076 - |
- | 0.0001 | 0.095 | - | |
| 358_TRP | CYS |
VAR_011999
rs1804498 |
LB/B | - | 0.9986 | - | |
| 368_CYS | TYR |
8.3kJPN chr3:133478130 rs1299270179 |
- | 0.0001 | 0.9926 | - | |
| 379_ALA | THR |
8.3kJPN chr3:133478162 rs761574297 |
- | 0.0001 | 0.0826 | - | |
| 396_VAL | ILE |
8.3kJPN chr3:133483065 - |
- | 0.0001 | 0.0936 | - | |
| 416_ASP | ASN |
8.3kJPN chr3:133483724 rs201067725 |
- | 0.0001 | 0.0681 | - | |
| 429_VAL | ILE |
VAR_058199
rs2692696 |
LB/B | - | - | - | |
| 429_ILE | VAL |
gnomAD chr3:133485133 rs2692696 |
- | 0.99126 | - | - | |
| 430_ALA | THR |
8.3kJPN chr3:133485136 - |
- | 0.0001 | 0.7808 | - | |
| 445_LYS | ARG |
8.3kJPN chr3:133485182 rs753390506 |
- | 0.0001 | 0.0731 | - | |
| 458_ALA | PRO |
VAR_012997
rs121918679 |
LP/P | - | 0.9544 | Atransferrinemia (ATRAF) [MIM:209300] | |
| 458_ALA | PRO |
ClinVar chr3:133485220 rs121918679 |
Pathogenic | - | 0.9544 | Atransferrinemia [Human Phenotype Ontology:HP:0012239,MONDO:MONDO:0008846,MedGen:C0521802,OMIM:209300,Orphanet:1195] | |
| 463_PRO | SER |
ClinVar chr3:133485235 rs2107925842 |
Likely pathogenic | - | 0.9636 | Atransferrinemia [Human Phenotype Ontology:HP:0012239,MONDO:MONDO:0008846,MedGen:C0521802,OMIM:209300,Orphanet:1195] | |
| 467_LEU | PHE |
8.3kJPN chr3:133485247 rs771354238 |
- | 0.0001 | 0.4908 | - | |
| 496_LYS | THR |
8.3kJPN chr3:133486930 - |
- | 0.0001 | 0.1335 | - | |
| 516_GLY | SER |
8.3kJPN chr3:133486989 rs752715864 |
- | 0.0001 | 0.1897 | - | |
| 520_ALA | THR |
gnomAD chr3:133487001 rs369813809 |
- | 0.000159103 | 0.5781 | - | |
| 543_GLY | VAL |
VAR_034571
rs41296590 |
LB/B | - | 0.3286 | - | |
| 570_PRO | SER |
VAR_012000
rs1049296 |
LB/B | - | 0.0906 | - | |
| 570_PRO | SER |
gnomAD chr3:133494354 rs1049296 |
- | 0.160287 | 0.0906 | - | |
| 570_PRO | SER |
8.3kJPN chr3:133494354 rs1049296 |
- | 0.2232 | 0.0906 | - | |
| 590_ARG | TRP |
ClinVar chr3:133494414 rs773139494 |
Likely pathogenic | - | 0.4956 | Atransferrinemia [Human Phenotype Ontology:HP:0012239,MONDO:MONDO:0008846,MedGen:C0521802,OMIM:209300,Orphanet:1195] | |
| 592_ASP | TYR |
8.3kJPN chr3:133494420 - |
- | 0.0004 | 0.4429 | - | |
| 616_SER | LEU |
gnomAD chr3:133495924 rs199594823 |
- | 0.000497093 | 0.1101 | - | |
| 626_THR | PRO |
VAR_012001
rs1130537 |
LB/B | - | 0.3518 | - | |
| 627_LYS | GLU |
VAR_012998
rs121918678 |
LB/B | - | 0.3548 | - | |
| 627_LYS | GLU |
ClinVar chr3:133495956 rs121918678 |
Pathogenic | - | 0.3548 | - [-] | |
| 634_ASP | GLY |
8.3kJPN chr3:133495978 - |
- | 0.0001 | 0.5985 | - | |
| 652_GLY | GLU |
VAR_012999
rs121918677 |
LB/B | - | 0.7741 | - | |
| 652_GLY | GLU |
gnomAD chr3:133496032 rs121918677 |
- | 0.0025076 | 0.7741 | - | |
| 673_ALA | VAL |
8.3kJPN chr3:133497442 rs1032981099 |
- | 0.0001 | 0.1472 | - | |
| 677_ARG | HIS |
8.3kJPN chr3:133497454 rs57329669 |
- | 0.0001 | 0.0741 | - |