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

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state
Binding partners
1DEV (CHAIN: A)
1 O95405  
2 Monomeric state
3 Q15796   Q15796  
4 P84022   O95405  
5 Q15796   Q15796   Q9Y2U8  
6 Q15796   Q15796   P12755  
7 P84022   P84022   P0AA25  

Downdload

Format:

Molecule viewer

#binding
partners
  5
  4
  3
  2
  1
  0

Sequence information

1   LDLQPVTYSE   PAFWCSIAYY   ELNQRVGETF   HASQPSLTVD   GFTDPSNSER   50
51   FCLGLLSNVN   RNATVEMTRR   HIGRGVRLYY   IGGEVFAECL   SDSAIFVQSP   100
101   NCNQRYGWHP   ATVCKIPPGC   NLKIFNNQEF   AALLAQSVNQ   GFEAVYQLTR   150
151   MCTIRMSFVK   GWGAEYRRQT   VTSTPCWIEL   HLNGPLQWLD   KVLTQM   200

Variants

Residue AA Source dbSNP Clinical
Significance
Allele
Frequency
(4.7kJPN)
Disease name
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 4.7kJPN
chr15:67477136
rs1468779374
- 0.0001 -
365_ARG CYS 4.7kJPN
chr15:67477160
rs967072552
- 0.0001 -
379_GLY TER ClinVar
chr15:67477202
-
Pathogenic - Thoracic aortic aneurysm and aortic dissection [MedGen:CN118826,Orphanet:ORPHA91387]
392_ALA ASP 4.7kJPN
chr15:67479742
-
- 0.0001 -
400_GLN HIS 4.7kJPN
chr15:67479767
-
- 0.0001 -
403_GLU TER ClinVar
chr15:67479774
rs387906856
Pathogenic - Loeys-Dietz syndrome 3 [MedGen:C3151087,OMIM:613795,Orphanet:ORPHA284984]
408_LEU PHE 4.7kJPN
chr15:67479791
-
- 0.0001 -
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 4.7kJPN
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]
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.