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
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
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]
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]
440_LEU ARG VAR_011377 - Unclassified A colorectal carcinoma sample
445_PRO HIS VAR_011378 - Unclassified A colorectal carcinoma sample
450_ASP HIS ClinVar
chr15:67482818
rs201263330 Likely pathogenic not provided [MedGen:CN517202]
450_ASP GLU VAR_011379 - Unclassified A colorectal carcinoma sample