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 |
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 |
Only interaction residues |
|
||||||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
21_SER | ASN |
gnomAD chr3:133467331 |
rs146477698
|
- | 0.000373805 | - | |
23_ARG | LEU | VAR_034569 |
rs41298293
|
LB/B | - | - | |
23_ARG | LEU |
gnomAD chr3:133467337 |
rs41298293
|
- | 0.00276379 | - | |
36_SER | ARG | VAR_029280 |
rs8177318
|
LB/B | - | - | |
36_SER | ARG |
gnomAD chr3:133467377 |
rs8177318
|
- | 0.000163054 | - | |
57_ALA | VAL | VAR_034570 |
rs41298977
|
LB/B | - | - | |
57_ALA | VAL |
gnomAD chr3:133472449 |
rs41298977
|
- | 0.000433427 | - | |
57_ALA | VAL |
8.3kJPN chr3:133472449 |
rs41298977
|
- | 0.0041 | - | |
58_ASP | ASN | VAR_038810 |
rs121918681
|
LP/P | - | Atransferrinemia (ATRAF) [MIM:209300] | |
58_ASP | ASN |
ClinVar chr3:133472451 |
rs121918681
|
Pathogenic | - | Atransferrinemia [Human Phenotype Ontology:HP:0012239,MONDO:MONDO:0008846,MedGen:C0521802,OMIM:209300,Orphanet:1195] | |
75_ASN | SER |
gnomAD chr3:133472503 |
rs200551981
|
- | 0.000441362 | - | |
85_TYR | CYS |
8.3kJPN chr3:133472533 |
rs746672239
|
- | 0.001 | - | |
123_GLY | SER | VAR_011997 |
rs1799830
|
LB/B | - | - | |
152_ASN | SER |
8.3kJPN chr3:133474216 |
-
|
- | 0.0001 | - | |
155_SER | LEU |
gnomAD chr3:133474225 |
rs150679929
|
- | 0.000774926 | - | |
155_SER | LEU |
8.3kJPN chr3:133474225 |
rs150679929
|
- | 0.0016 | - | |
159_ALA | VAL |
8.3kJPN chr3:133474237 |
rs752884982
|
- | 0.0001 | - | |
165_THR | ALA |
gnomAD chr3:133474254 |
rs139768770
|
- | 0.00010439 | - | |
200_GLY | ARG |
8.3kJPN chr3:133475145 |
-
|
- | 0.0001 | - | |
232_ARG | GLN |
8.3kJPN chr3:133475735 |
rs972941728
|
- | 0.0001 | - | |
258_GLY | SER | VAR_011998 |
rs1799899
|
LB/B | - | - | |
258_GLY | ASP |
ClinVar chr3:133475813 |
rs121918676
|
Pathogenic | - | - [-] | |
258_GLY | SER |
gnomAD chr3:133475812 |
rs1799899
|
- | 0.0523667 | - | |
277_ASP | GLY | VAR_007544 |
rs8177238
|
LB/B | - | - | |
277_ASP | GLY |
gnomAD chr3:133476629 |
rs8177238
|
- | 0.00288353 | - | |
300_HIS | ARG | VAR_007545 |
rs41295774
|
LB/B | - | - | |
300_HIS | ARG |
gnomAD chr3:133476698 |
rs41295774
|
- | 0.00328851 | - | |
300_HIS | ARG |
8.3kJPN chr3:133476698 |
rs41295774
|
- | 0.0064 | - | |
324_ARG | TRP |
gnomAD chr3:133476769 |
rs150854910
|
- | 0.000843358 | - | |
327_ARG | TRP |
8.3kJPN chr3:133476778 |
rs143019827
|
- | 0.0017 | - | |
327_ARG | GLN |
8.3kJPN chr3:133476779 |
rs773827823
|
- | 0.0005 | - | |
336_THR | LYS |
8.3kJPN chr3:133478034 |
rs773883338
|
- | 0.0001 | - | |
350_HIS | ARG |
8.3kJPN chr3:133478076 |
-
|
- | 0.0001 | - | |
358_TRP | CYS | VAR_011999 |
rs1804498
|
LB/B | - | - | |
368_CYS | TYR |
8.3kJPN chr3:133478130 |
rs1299270179
|
- | 0.0001 | - | |
379_ALA | THR |
8.3kJPN chr3:133478162 |
rs761574297
|
- | 0.0001 | - | |
396_VAL | ILE |
8.3kJPN chr3:133483065 |
-
|
- | 0.0001 | - | |
416_ASP | ASN |
8.3kJPN chr3:133483724 |
rs201067725
|
- | 0.0001 | - | |
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 | - | |
445_LYS | ARG |
8.3kJPN chr3:133485182 |
rs753390506
|
- | 0.0001 | - | |
458_ALA | PRO | VAR_012997 |
rs121918679
|
LP/P | - | Atransferrinemia (ATRAF) [MIM:209300] | |
458_ALA | PRO |
ClinVar chr3:133485220 |
rs121918679
|
Pathogenic | - | Atransferrinemia [Human Phenotype Ontology:HP:0012239,MONDO:MONDO:0008846,MedGen:C0521802,OMIM:209300,Orphanet:1195] | |
463_PRO | SER |
ClinVar chr3:133485235 |
rs2107925842
|
Likely pathogenic | - | 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 | - | |
496_LYS | THR |
8.3kJPN chr3:133486930 |
-
|
- | 0.0001 | - | |
516_GLY | SER |
8.3kJPN chr3:133486989 |
rs752715864
|
- | 0.0001 | - | |
520_ALA | THR |
gnomAD chr3:133487001 |
rs369813809
|
- | 0.000159103 | - | |
543_GLY | VAL | VAR_034571 |
rs41296590
|
LB/B | - | - | |
570_PRO | SER | VAR_012000 |
rs1049296
|
LB/B | - | - | |
570_PRO | SER |
gnomAD chr3:133494354 |
rs1049296
|
- | 0.160287 | - | |
570_PRO | SER |
8.3kJPN chr3:133494354 |
rs1049296
|
- | 0.2232 | - | |
590_ARG | TRP |
ClinVar chr3:133494414 |
rs773139494
|
Likely pathogenic | - | Atransferrinemia [Human Phenotype Ontology:HP:0012239,MONDO:MONDO:0008846,MedGen:C0521802,OMIM:209300,Orphanet:1195] | |
592_ASP | TYR |
8.3kJPN chr3:133494420 |
-
|
- | 0.0004 | - | |
616_SER | LEU |
gnomAD chr3:133495924 |
rs199594823
|
- | 0.000497093 | - | |
626_THR | PRO | VAR_012001 |
rs1130537
|
LB/B | - | - | |
627_LYS | GLU | VAR_012998 |
rs121918678
|
LB/B | - | - | |
627_LYS | GLU |
ClinVar chr3:133495956 |
rs121918678
|
Pathogenic | - | - [-] | |
634_ASP | GLY |
8.3kJPN chr3:133495978 |
-
|
- | 0.0001 | - | |
652_GLY | GLU | VAR_012999 |
rs121918677
|
LB/B | - | - | |
652_GLY | GLU |
gnomAD chr3:133496032 |
rs121918677
|
- | 0.0025076 | - | |
673_ALA | VAL |
8.3kJPN chr3:133497442 |
rs1032981099
|
- | 0.0001 | - | |
677_ARG | HIS |
8.3kJPN chr3:133497454 |
rs57329669
|
- | 0.0001 | - |