PDB ID | 1F0J | CHAIN | A |
---|---|---|---|
Protein name | PHOSPHODIESTERASE 4B | ||
Uniprot Accession | Q07343 | ||
The number of similar proteins | 32 | ||
The number of binding states | 1 | ||
The number of binding partners | 0 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1F0J (CHAIN: A) | |
1 | Monomeric state |
Only interaction residues |
|
||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
155_ARG | GLN |
8.3kJPN chr19:10568738 |
rs1269711202
|
- | 0.0002 | - | |
159_LYS | MET |
8.3kJPN chr19:10568750 |
-
|
- | 0.0001 | - | |
161_ASP | TYR |
8.3kJPN chr19:10568755 |
-
|
- | 0.0001 | - | |
182_ASN | SER |
8.3kJPN chr1:66828891 |
-
|
- | 0.0001 | - | |
210_ARG | CYS |
gnomAD chr19:10570295 |
rs201196140
|
- | 0.000103517 | - | |
220_MET | ILE |
8.3kJPN chr19:10570327 |
-
|
- | 0.0001 | - | |
225_ASP | GLY |
8.3kJPN chr1:66829160 |
-
|
- | 0.0001 | - | |
229_ALA | THR |
8.3kJPN chr19:10570352 |
rs183936414
|
- | 0.0007 | - | |
231_VAL | MET |
8.3kJPN chr19:10570358 |
-
|
- | 0.0001 | - | |
236_SER | ARG |
gnomAD chr1:66829194 |
rs146166974
|
- | 0.000195553 | - | |
243_ALA | VAL |
8.3kJPN chr1:66829214 |
-
|
- | 0.0001 | - | |
291_SER | PRO |
8.3kJPN chr5:58273170 |
-
|
- | 0.0001 | - | |
313_LYS | ARG |
gnomAD chr19:10572271 |
rs141379029
|
- | 0.000369887 | - | |
331_ARG | TRP |
gnomAD chr19:10572324 |
rs146986676
|
- | 0.00040994 | - | |
341_MET | LEU |
8.3kJPN chr19:10572354 |
rs776679347
|
- | 0.0002 | - | |
359_THR | PRO |
ClinVar chr5:58272248 |
rs397514467
|
Pathogenic | - | Acrodysostosis 2 with or without hormone resistance [MONDO:MONDO:0013822,MedGen:C3553250,OMIM:614613,Orphanet:280651] | |
367_THR | PRO |
ClinVar chr5:58272224 |
rs2153305991
|
Likely pathogenic | - | not provided [MedGen:C3661900] | |
377_TYR | CYS |
ClinVar chr5:58272193 |
rs1554033904
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
379_ASP | ASN |
8.3kJPN chr1:66833737 |
rs749156051
|
- | 0.0001 | - | |
385_ARG | GLN |
gnomAD chr19:10574476 |
rs200669683
|
- | 0.000234837 | - | |
395_ASN | THR |
8.3kJPN chr19:10574506 |
rs758029716
|
- | 0.0005 | - | |
397_THR | PRO |
8.3kJPN chr19:10574511 |
rs1221315322
|
- | 0.0011 | - | |
408_ASP | GLU |
gnomAD chr1:66834547 |
rs141437989
|
- | 0.000422873 | - | |
408_ASP | GLU |
8.3kJPN chr1:66834547 |
rs141437989
|
- | 0.0001 | - | |
409_ARG | TRP |
8.3kJPN chr5:58271588 |
rs775209507
|
- | 0.0001 | - | |
416_ARG | CYS |
gnomAD chr5:58271567 |
rs371950648
|
- | 0.000112275 | - | |
422_ARG | TRP |
8.3kJPN chr1:66834587 |
rs201667673
|
- | 0.0001 | - | |
422_ARG | HIS |
8.3kJPN chr19:10574587 |
rs373223236
|
- | 0.0002 | - | |
423_GLU | ALA |
ClinVar chr5:58271545 |
rs387906744
|
Pathogenic | - | Acrodysostosis 2 with or without hormone resistance [MONDO:MONDO:0013822,MedGen:C3553250,OMIM:614613,Orphanet:280651] | |
431_MET | ILE |
8.3kJPN chr19:10574615 |
rs1340115666
|
- | 0.0001 | - | |
437_ALA | PRO |
8.3kJPN chr19:10574631 |
-
|
- | 0.0001 | - | |
445_GLY | ASP |
ClinVar chr5:58270903 |
rs397514469
|
Pathogenic | - | Acrodysostosis 2 with or without hormone resistance [MONDO:MONDO:0013822,MedGen:C3553250,OMIM:614613,Orphanet:280651] | |
450_ILE | THR |
ClinVar chr5:58270888 |
rs587777188
|
Pathogenic | - | Acrodysostosis 2 with or without hormone resistance|not provided [MONDO:MONDO:0013822,MedGen:C3553250,OMIM:614613,Orphanet:280651|MedGen:C3661900] | |
456_GLU | GLY |
ClinVar chr5:58270870 |
rs1743358464
|
Likely pathogenic | - | Acrodysostosis 2 with or without hormone resistance [MONDO:MONDO:0013822,MedGen:C3553250,OMIM:614613,Orphanet:280651] | |
462_VAL | ILE |
8.3kJPN chr5:58270853 |
rs192644692
|
- | 0.0001 | - | |
468_GLU | LYS |
8.3kJPN chr19:10577635 |
-
|
- | 0.0001 | - | |
472_THR | SER |
8.3kJPN chr1:66838080 |
rs779182342
|
- | 0.0003 | - | |
481_GLN | HIS |
8.3kJPN chr5:58270794 |
-
|
- | 0.0001 | - | |
485_ARG | GLN |
gnomAD chr19:10577687 |
rs146370645
|
- | 0.00111828 | - | |
499_HIS | ARG |
8.3kJPN chr19:10577735 |
-
|
- | 0.0001 | - | |
507_GLN | ARG |
8.3kJPN chr5:58270717 |
-
|
- | 0.0001 | - | |
508_PHE | LEU |
gnomAD chr19:10577761 |
rs200879302
|
- | 0.000171326 | - |