PDB ID | 2FM0 | CHAIN | A |
---|---|---|---|
Protein name | cAMP-specific 3',5'-cyclic phosphodiesterase 4D | ||
Uniprot Accession | Q08499 | ||
The number of similar proteins | 161 | ||
The number of binding states | 5 | ||
The number of binding partners | 1 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
2FM0 (CHAIN: A) | |
1 | Q08499 Q08499 Q08499 |
2 | Monomeric state |
3 | Q08499 |
4 | Q08499 Q08499 |
5 | Q08499 Q08499 Q08499 Q08499 |
Only interaction residues |
|
||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
80_PRO | ALA |
gnomAD chr19:18330088 |
rs147234546
|
- | 0.00218452 | - | |
81_ARG | HIS |
gnomAD chr19:18330084 |
rs555152018
|
- | 0.000911109 | - | |
81_ARG | GLN |
8.3kJPN chr19:10568738 |
rs1269711202
|
- | 0.0002 | - | |
81_ARG | HIS |
8.3kJPN chr19:18330084 |
rs555152018
|
- | 0.0001 | - | |
85_LYS | MET |
8.3kJPN chr19:10568750 |
-
|
- | 0.0001 | - | |
87_ASP | TYR |
8.3kJPN chr19:10568755 |
-
|
- | 0.0001 | - | |
108_ASN | SER |
8.3kJPN chr1:66828891 |
-
|
- | 0.0001 | - | |
110_ALA | VAL |
8.3kJPN chr19:18329802 |
rs772270728
|
- | 0.0001 | - | |
116_ARG | GLN |
gnomAD chr19:18329784 |
rs2229228
|
- | 0.290054 | - | |
116_ARG | TRP |
gnomAD chr19:18329785 |
rs11879710
|
- | 0.00571006 | - | |
116_ARG | GLN |
8.3kJPN chr19:18329784 |
rs2229228
|
- | 0.1442 | - | |
136_ARG | CYS |
gnomAD chr19:10570295 |
rs201196140
|
- | 0.000103517 | - | |
146_MET | ILE |
8.3kJPN chr19:10570327 |
-
|
- | 0.0001 | - | |
151_ASP | GLY |
8.3kJPN chr1:66829160 |
-
|
- | 0.0001 | - | |
155_ALA | THR |
8.3kJPN chr19:10570352 |
rs183936414
|
- | 0.0007 | - | |
156_ASN | SER |
gnomAD chr19:18329223 |
rs113176090
|
- | 0.000111362 | - | |
157_VAL | MET |
8.3kJPN chr19:10570358 |
-
|
- | 0.0001 | - | |
162_SER | ARG |
gnomAD chr1:66829194 |
rs146166974
|
- | 0.000195553 | - | |
169_ALA | VAL |
8.3kJPN chr1:66829214 |
-
|
- | 0.0001 | - | |
178_THR | ALA |
8.3kJPN chr19:18329158 |
-
|
- | 0.0001 | - | |
204_HIS | ARG |
8.3kJPN chr19:18328994 |
-
|
- | 0.0001 | - | |
216_ASN | ASP |
8.3kJPN chr19:18328959 |
-
|
- | 0.0001 | - | |
217_SER | PRO |
8.3kJPN chr5:58273170 |
-
|
- | 0.0001 | - | |
239_LYS | ARG |
gnomAD chr19:10572271 |
rs141379029
|
- | 0.000369887 | - | |
257_ARG | TRP |
gnomAD chr19:10572324 |
rs146986676
|
- | 0.00040994 | - | |
267_MET | LEU |
8.3kJPN chr19:10572354 |
rs776679347
|
- | 0.0002 | - | |
285_THR | PRO | VAR_068245 |
rs397514467
|
LP/P | - | Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613] | |
285_THR | PRO |
ClinVar chr5:58272248 |
rs397514467
|
Pathogenic | - | Acrodysostosis 2 with or without hormone resistance [MONDO:MONDO:0013822,MedGen:C3553250,OMIM:614613,Orphanet:280651] | |
288_GLU | ALA | VAR_069453 |
-
|
LP/P | - | Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613] | |
293_THR | PRO |
ClinVar chr5:58272224 |
rs2153305991
|
Likely pathogenic | - | not provided [MedGen:C3661900] | |
303_TYR | CYS |
ClinVar chr5:58272193 |
rs1554033904
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
305_ASP | ASN |
8.3kJPN chr1:66833737 |
rs749156051
|
- | 0.0001 | - | |
306_ARG | GLN |
gnomAD chr19:18324185 |
rs371170617
|
- | 0.00034246 | - | |
311_ARG | GLN |
gnomAD chr19:10574476 |
rs200669683
|
- | 0.000234837 | - | |
319_LEU | VAL |
8.3kJPN chr19:18322721 |
-
|
- | 0.0001 | - | |
321_ASN | THR |
8.3kJPN chr19:10574506 |
rs758029716
|
- | 0.0005 | - | |
323_THR | PRO |
8.3kJPN chr19:10574511 |
rs1221315322
|
- | 0.0011 | - | |
325_PRO | LEU |
gnomAD chr19:18322702 |
rs149614671
|
- | 0.000242628 | - | |
325_PRO | LEU |
8.3kJPN chr19:18322702 |
rs149614671
|
- | 0.0005 | - | |
334_ASP | GLU |
gnomAD chr1:66834547 |
rs141437989
|
- | 0.000422873 | - | |
334_ASP | GLU |
8.3kJPN chr1:66834547 |
rs141437989
|
- | 0.0001 | - | |
335_ARG | TRP |
8.3kJPN chr5:58271588 |
rs775209507
|
- | 0.0001 | - | |
342_ARG | CYS |
gnomAD chr5:58271567 |
rs371950648
|
- | 0.000112275 | - | |
348_ARG | TRP |
8.3kJPN chr1:66834587 |
rs201667673
|
- | 0.0001 | - | |
348_ARG | HIS |
8.3kJPN chr19:10574587 |
rs373223236
|
- | 0.0002 | - | |
349_GLU | ALA |
ClinVar chr5:58271545 |
rs387906744
|
Pathogenic | - | Acrodysostosis 2 with or without hormone resistance [MONDO:MONDO:0013822,MedGen:C3553250,OMIM:614613,Orphanet:280651] | |
352_LEU | PRO |
8.3kJPN chr19:18322621 |
-
|
- | 0.0001 | - | |
357_MET | ILE |
8.3kJPN chr19:10574615 |
rs1340115666
|
- | 0.0001 | - | |
363_ALA | PRO |
8.3kJPN chr19:10574631 |
-
|
- | 0.0001 | - | |
371_GLY | ASP | VAR_069454 |
rs397514469
|
LP/P | - | Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613] | |
371_GLY | ASP |
ClinVar chr5:58270903 |
rs397514469
|
Pathogenic | - | Acrodysostosis 2 with or without hormone resistance [MONDO:MONDO:0013822,MedGen:C3553250,OMIM:614613,Orphanet:280651] | |
376_ILE | THR | VAR_069455 |
rs587777188
|
LP/P | - | Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613] | |
376_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] | |
376_ILE | THR |
8.3kJPN chr19:18322067 |
-
|
- | 0.0001 | - | |
382_GLU | GLY |
ClinVar chr5:58270870 |
rs1743358464
|
Likely pathogenic | - | Acrodysostosis 2 with or without hormone resistance [MONDO:MONDO:0013822,MedGen:C3553250,OMIM:614613,Orphanet:280651] | |
388_VAL | ILE |
8.3kJPN chr5:58270853 |
rs192644692
|
- | 0.0001 | - | |
394_GLU | LYS |
8.3kJPN chr19:10577635 |
-
|
- | 0.0001 | - | |
398_THR | SER |
8.3kJPN chr1:66838080 |
rs779182342
|
- | 0.0003 | - | |
407_GLN | HIS |
8.3kJPN chr5:58270794 |
-
|
- | 0.0001 | - | |
411_ARG | GLN |
gnomAD chr19:10577687 |
rs146370645
|
- | 0.00111828 | - |