PID |
QueryLength |
Homolgous Sequence in PDB |
UniProt Query |
TITLE |
20585 |
425 |
31 |
P84022(SMAD3_HUMAN) |
RecName: Full=Mothers against decapentaplegic homolog 3; Short=MAD homolog 3; Short=Mad3; Short=Mothers against DPP homolog 3; Short=hMAD-3;AltName: Full=JV15-2;AltName: Full=SMAD family member 3; Short=SMAD 3; Short=Smad3; Short=hSMAD3; |
QUERYSEQ |
MSSILPFTPPIVKRLLGWKKGEQNGQEEKWCEKAVKSLVKKLKKTGQLDELEKAITTQNVNTKCITIPRSLDGRLQVSHRKGLPHVIYCRLWRWPDLHSHHELRAMELCEFAFNMKKDEVCVNPYHYQRVETPVLPPVLVPRHTEIPAEF
PPLDDYSHSIPENTNFPAGIEPQSNIPETPPPGYLSEDGETSDHQMNHSMDAGSPNLSPNPMSPAHNNLDLQPVTYCEPAFWCSISYYELNQRVGETFHASQPSMTVDGFTDPSNSERFCLGLLSNVNRNAAVELTRRHIGRGVRLYYIG
GEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGFEAVYQLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSIRCSSVS
|
[BLAST file for PDB]
(plain)
(bar)
(multiple alignment)
[BLAST for UniProt:
(plain)
(bar)
(multiple alignment)
(PSSM file)
]
Statistics of sites in view of Disease classification
| All |
613795 Loeys-Dietz syndrome 3 (LDS3) | LB/B (likely benign or benign) | US (uncertain significance) |
Number of sites |
425 |
5 |
1 |
1 |
Buired or Exposed | Buried |
41.0 (%) [137] |
60.0 (%) [3] |
|
100.0 (%) [1] |
Exposed |
59.0 (%) [197] |
40.0 (%) [2] |
|
0.0 (%) [0] |
Ave relacc |
32.7 % |
20.3 % |
0.0 % |
3.9 % |
SD relacc |
29.02 % |
23.52 % |
0.00 % |
0.00 % |
Contact Mol | hetero |
26.4 (%) [112] |
60.0 (%) [3] |
0.0 (%) [0] |
0.0 (%) [0] |
nucleotide |
3.5 (%) [15] |
0.0 (%) [0] |
0.0 (%) [0] |
0.0 (%) [0] |
compound |
3.8 (%) [16] |
40.0 (%) [2] |
0.0 (%) [0] |
0.0 (%) [0] |
metal |
0.9 (%) [4] |
0.0 (%) [0] |
0.0 (%) [0] |
0.0 (%) [0] |
otherpoly |
0.0 (%) [0] |
0.0 (%) [0] |
0.0 (%) [0] |
0.0 (%) [0] |
homo |
28.9 (%) [123] |
40.0 (%) [2] |
0.0 (%) [0] |
0.0 (%) [0] |
precipitant |
16.9 (%) [72] |
20.0 (%) [1] |
0.0 (%) [0] |
0.0 (%) [0] |
Number of variants |
7 |
5 |
1 |
1 |
N_Freq(AAvariant)==0 % |
|
60.0 % [3] |
0.0 % [0] |
100.0 % [1] |
N_Freq(AAvariant)>0 % |
|
40.0 % [2] |
100.0 % [1] |
0.0 % [0] |
Ave Freq(AAvariant) |
|
3.4 % |
13.0 % |
0.0 % |
SD Freq(AAvariant) |
|
4.18 % |
0.00 % |
0.00 % |
Site Table for OMIM:613795 Loeys-Dietz syndrome 3 (LDS3) [5 variants]
5 sites |
112,239,261,279,287 |
[n]:site number of query sequence. [a]:amino acid of query sequence. [s]:predicted secondary structure.
[e]:predicted exposed/buried. [acc]:predicted relative accesssibility(%). [pdb]:PDB code of homologous structure.
[contact_mols]:predicted binding molecules [observed aa]:Observed amino acids among homologous sequences. [feature table]:UniProt Feature Table
[variant]:UniProt Human Variant.
n |
a |
s |
e |
acc |
pdb |
contact_mols |
observed aa |
feature table |
variant |
112 | A | | b | 1.8 | 1ozj_C |
|
APYFCST |
DOMAIN /note="MH1" DOMAIN /note="MH1" |
A->V:(0.0 %):LP/P Loeys-Dietz syndrome 3 (LDS3) dbSNP:rs3879068 [MIM:613795] |
239 | E | E | b | 1.0 | 1mk2_A |
|
E |
DOMAIN /note="MH2" DOMAIN /note="MH2" |
E->K:(0.0 %):LP/P Loeys-Dietz syndrome 3 (LDS3) dbSNP:rs3879068 [MIM:613795] |
261 | T | S | e | 64.3 | 1mk2_A |
hetero SMAD4_HUMAN homo |
TYIMV |
DOMAIN /note="MH2" DOMAIN /note="MH2" |
T->I:(9.0 %):LP/P Loeys-Dietz syndrome 3 (LDS3) dbSNP:rs3879068 [MIM:613795] |
279 | R | | e | 24.1 | 1mk2_A |
hetero SMAD4_HUMAN compound TAR precipitant |
RK |
REGION /note="Sufficient for interaction with XPO4" DOMAIN /note="MH2" REGION /note="Sufficient for interaction with XPO4" DOMAIN /note="MH2" |
R->K:(8.0 %):LP/P Loeys-Dietz syndrome 3 (LDS3) dbSNP:rs3879068 [MIM:613795] |
287 | R | H | b | 10.3 | 1mk2_A |
hetero SMAD4_HUMAN compound TAR homo |
R |
REGION /note="Sufficient for interaction with XPO4" DOMAIN /note="MH2" REGION /note="Sufficient for interaction with XPO4" DOMAIN /note="MH2" |
R->W:(0.0 %):LP/P Loeys-Dietz syndrome 3 (LDS3) dbSNP:rs3879068 [MIM:613795] |
Site Table for OMIM:LB/B [1 variants]
[n]:site number of query sequence. [a]:amino acid of query sequence. [s]:predicted secondary structure.
[e]:predicted exposed/buried. [acc]:predicted relative accesssibility(%). [pdb]:PDB code of homologous structure.
[contact_mols]:predicted binding molecules [observed aa]:Observed amino acids among homologous sequences. [feature table]:UniProt Feature Table
[variant]:UniProt Human Variant.
n |
a |
s |
e |
acc |
pdb |
contact_mols |
observed aa |
feature table |
variant |
170 | I | - | - | - | - |
|
IFVLSADEGKNPQRTY |
REGION /note="Disordered" REGION /note="Linker" REGION /note="Disordered" REGION /note="Linker" |
I->V:(13.0 %):LB/B - dbSNP:rs3587446 |
Site Table for OMIM:US [1 variants]
[n]:site number of query sequence. [a]:amino acid of query sequence. [s]:predicted secondary structure.
[e]:predicted exposed/buried. [acc]:predicted relative accesssibility(%). [pdb]:PDB code of homologous structure.
[contact_mols]:predicted binding molecules [observed aa]:Observed amino acids among homologous sequences. [feature table]:UniProt Feature Table
[variant]:UniProt Human Variant.
n |
a |
s |
e |
acc |
pdb |
contact_mols |
observed aa |
feature table |
variant |
393 | P | S | b | 3.9 | 1mk2_A |
|
P |
DOMAIN /note="MH2" DOMAIN /note="MH2" |
P->L:(0.0 %):US A colorectal cancer sample |