PDB ID | 1DEV
|
CHAIN | A |
---|---|---|---|
Protein name | MAD (mothers against decapentaplegic, Drosophila) homolog 2 | ||
Uniprot Accession | Q15796 | ||
The number of similar proteins | 13 | ||
The number of binding states | 7 | ||
The number of binding partners | 5 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1DEV (CHAIN: A) | |
1 |
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2 | Monomeric state |
3 |
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4 |
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5 |
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6 |
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7 |
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Only interaction residues |
|
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|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
285_ARG | CYS |
8.3kJPN chr15:67473647 |
rs886039137
|
- | 0.0001 | - | |
300_ASP | VAL | VAR_036473 |
-
|
Unclassified | - | A colorectal cancer sample | |
303_THR | ILE |
ClinVar chr15:67473702 |
rs387906851
|
Pathogenic | - | Loeys-Dietz syndrome 3 [MedGen:C3151087,OMIM:613795,Orphanet:ORPHA284984] | |
308_SER | TER |
ClinVar chr15:67473717 |
rs753486471
|
Pathogenic | - | Cardiovascular phenotype [MedGen:CN230736]; Thoracic aortic aneurysm and aortic dissection [MedGen:CN118826,Orphanet:ORPHA91387] | |
312_CYS | SER |
ClinVar chr18:45374908 |
rs797044882
|
Pathogenic | - | Inborn genetic diseases [MeSH:D030342,MedGen:C0950123] | |
316_LEU | PRO |
ClinVar chr15:67473741 |
rs863223741
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
321_ARG | LYS |
ClinVar chr15:67473756 |
rs387906852
|
Pathogenic | - | Loeys-Dietz syndrome 3 [MedGen:C3151087,OMIM:613795,Orphanet:ORPHA284984] | |
333_GLY | ARG |
ClinVar chr15:67473791 |
rs730880215
|
Likely pathogenic | - | Loeys-Dietz syndrome [MedGen:C2697932,Orphanet:ORPHA60030,SNOMED CT:446263001] | |
333_GLY | TER |
ClinVar chr15:67473791 |
rs730880215
|
Pathogenic | - | Cardiovascular phenotype [MedGen:CN230736] | |
357_VAL | ILE |
8.3kJPN chr15:67477136 |
rs1468779374
|
- | 0.0001 | - | |
365_ARG | CYS |
8.3kJPN chr15:67477160 |
rs967072552
|
- | 0.0001 | - | |
379_GLY | TER |
ClinVar chr15:67477202 |
-
|
Pathogenic | - | Thoracic aortic aneurysm and aortic dissection [MedGen:CN118826,Orphanet:ORPHA91387] | |
403_GLU | TER |
ClinVar chr15:67479774 |
rs387906856
|
Pathogenic | - | Loeys-Dietz syndrome 3 [MedGen:C3151087,OMIM:613795,Orphanet:ORPHA284984] | |
410_ARG | TER |
ClinVar chr15:67479795 |
rs757106110
|
Pathogenic | - | Cardiovascular phenotype [MedGen:CN230736]; Thoracic aortic aneurysm and aortic dissection [MedGen:CN118826,Orphanet:ORPHA91387]; not provided [MedGen:CN517202] | |
427_ARG | THR |
ClinVar chr15:67479847 |
rs886038770
|
Likely pathogenic | - | Cardiovascular phenotype [MedGen:CN230736] | |
435_PRO | SER |
8.3kJPN chr18:45368299 |
rs1236865589
|
- | 0.0001 | - | |
440_LEU | ARG | VAR_011377 |
-
|
Unclassified | - | A colorectal carcinoma sample | |
445_PRO | HIS | VAR_011378 |
-
|
Unclassified | - | A colorectal carcinoma sample | |
450_ASP | GLU | VAR_011379 |
-
|
Unclassified | - | A colorectal carcinoma sample | |
450_ASP | HIS |
ClinVar chr15:67482818 |
rs201263330
|
Likely pathogenic | - | not provided [MedGen:CN517202] |