PID |
QueryLength |
Homolgous Sequence in PDB |
UniProt Query |
TITLE |
27906 |
918 |
38 |
P40189(IL6RB_HUMAN) |
RecName: Full=Interleukin-6 receptor subunit beta ; Short=IL-6 receptor subunit beta; Short=IL-6R subunit beta; Short=IL-6R-beta; Short=IL-6RB;AltName: Full=CDw130;AltName: Full=Interleukin-6 signal transducer;AltName: Full=Membrane glycoprotein 130; Short=gp130 ;AltName: Full=Oncostatin-M receptor subunit alpha;AltName: CD_antigen=CD130;Flags: Precursor; |
QUERYSEQ |
MLTLQTWLVQALFIFLTTESTGELLDPCGYISPESPVVQLHSNFTAVCVLKEKCMDYFHVNANYIVWKTNHFTIPKEQYTIINRTASSVTFTDIASLNIQLTCNILTFGQLEQNVYGITIISGLPPEKPKNLSCIVNEGKKMRCEWDGGR
ETHLETNFTLKSEWATHKFADCKAKRDTPTSCTVDYSTVYFVNIEVWVEAENALGKVTSDHINFDPVYKVKPNPPHNLSVINSEELSSILKLTWTNPSIKSVIILKYNIQYRTKDASTWSQIPPEDTASTRSSFTVQDLKPFTEYVFRIR
CMKEDGKGYWSDWSEEASGITYEDRPSKAPSFWYKIDPSHTQGYRTVQLVWKTLPPFEANGKILDYEVTLTRWKSHLQNYTVNATKLTVNLTNDRYLATLTVRNLVGKSDAAVLTIPACDFQATHPVMDLKAFPKDNMLWVEWTTPRESV
KKYILEWCVLSDKAPCITDWQQEDGTVHRTYLRGNLAESKCYLITVTPVYADGPGSPESIKAYLKQAPPSKGPTVRTKKVGKNEAVLEWDQLPVDVQNGFIRNYTIFYRTIIGNETAVNVDSSHTEYTLSSLTSDTLYMVRMAAYTDEGG
KDGPEFTFTTPKFAQGEIEAIVVPVCLAFLLTTLLGVLFCFNKRDLIKKHIWPNVPDPSKSHIAQWSPHTPPRHNFNSKDQMYSDGNFTDVSVVEIEANDKKPFPEDLKSLDLFKKEKINTEGHSSGIGGSSCMSSSRPSISSSDENESS
QNTSSTVQYSTVVHSGYRHQVPSVQVFSRSESTQPLLDSEERPEDLQLVDHVDGGDGILPRQQYFKQNCSQHESSPDISHFERSKQVSSVNEEDFVRLKQQISDHISQSCGSGQMKMFQEVSAADAFGPGTEGQVERFETVGMEAATDEG
MPKSYLPQTVRQGGYMPQ
|
[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 |
618523 Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections (HIES4B) | LB/B (likely benign or benign) | US (uncertain significance) |
Number of sites |
918 |
3 |
5 |
2 |
Buired or Exposed | Buried |
37.5 (%) [221] |
66.7 (%) [2] |
50.0 (%) [2] |
50.0 (%) [1] |
Exposed |
62.5 (%) [368] |
33.3 (%) [1] |
50.0 (%) [2] |
50.0 (%) [1] |
Ave relacc |
33.7 % |
10.6 % |
18.8 % |
14.3 % |
SD relacc |
25.67 % |
10.90 % |
17.83 % |
14.29 % |
Contact Mol | hetero |
8.6 (%) [79] |
0.0 (%) [0] |
0.0 (%) [0] |
0.0 (%) [0] |
nucleotide |
0.0 (%) [0] |
0.0 (%) [0] |
0.0 (%) [0] |
0.0 (%) [0] |
compound |
4.2 (%) [39] |
0.0 (%) [0] |
0.0 (%) [0] |
0.0 (%) [0] |
metal |
2.3 (%) [21] |
0.0 (%) [0] |
0.0 (%) [0] |
0.0 (%) [0] |
otherpoly |
4.5 (%) [41] |
0.0 (%) [0] |
0.0 (%) [0] |
0.0 (%) [0] |
homo |
2.2 (%) [20] |
0.0 (%) [0] |
0.0 (%) [0] |
0.0 (%) [0] |
precipitant |
12.1 (%) [111] |
0.0 (%) [0] |
0.0 (%) [0] |
0.0 (%) [0] |
Number of variants |
10 |
3 |
5 |
2 |
N_Freq(AAvariant)==0 % |
|
33.3 % [1] |
20.0 % [1] |
50.0 % [1] |
N_Freq(AAvariant)>0 % |
|
66.7 % [2] |
80.0 % [4] |
50.0 % [1] |
Ave Freq(AAvariant) |
|
1.0 % |
11.0 % |
1.5 % |
SD Freq(AAvariant) |
|
0.82 % |
8.85 % |
1.50 % |
Site Table for OMIM:618523 Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections (HIES4B) [3 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 |
404 | N | | b | 4.2 | 8d82_C |
|
NTDPSVAC |
DOMAIN /note="Fibronectin type-III 3" TOPO_DOM /note="Extracellular" DOMAIN /note="Fibronectin type-III 3" TOPO_DOM /note="Extracellular" |
N->Y:(0.0 %):LP/P Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections (HIES4B) [MIM:618523] |
498 | P | E | b | 1.6 | 8d82_C |
|
APNVFGRSTL |
DOMAIN /note="Fibronectin type-III 4" TOPO_DOM /note="Extracellular" DOMAIN /note="Fibronectin type-III 4" TOPO_DOM /note="Extracellular" |
P->L:(1.0 %):LP/P Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections (HIES4B) [MIM:618523] |
517 | A | | e | 25.9 | 8d82_C |
|
ASLTGKDHMPR |
DOMAIN /note="Fibronectin type-III 4" TOPO_DOM /note="Extracellular" DOMAIN /note="Fibronectin type-III 4" TOPO_DOM /note="Extracellular" |
A->P:(2.0 %):LP/P Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections (HIES4B) [MIM:618523] |
Site Table for OMIM:LB/B [5 variants]
5 sites |
8,148,397,454,499 |
[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 |
8 | L | - | - | - | - |
|
LVADEFGIKNPQRSTY |
SIGNAL SIGNAL DISORDER predicted by DISOPRED |
L->V:(26.0 %):LB/B - dbSNP:rs1063560 |
148 | G | | e | 27.4 | 8d82_C |
|
PGARSTLN |
DOMAIN /note="Fibronectin type-III 1" TOPO_DOM /note="Extracellular" DOMAIN /note="Fibronectin type-III 1" TOPO_DOM /note="Extracellular" |
G->R:(5.0 %):LB/B - dbSNP:rs2228044 |
397 | L | E | e | 43.8 | 8d82_C |
|
KLITVEPWASHMNQRY |
DOMAIN /note="Fibronectin type-III 3" TOPO_DOM /note="Extracellular" DOMAIN /note="Fibronectin type-III 3" TOPO_DOM /note="Extracellular" |
L->V:(10.0 %):LB/B - dbSNP:rs2228043 |
454 | I | E | b | 0.0 | 8d82_C |
|
IVLERFQGKMPS |
DOMAIN /note="Fibronectin type-III 4" TOPO_DOM /note="Extracellular" DOMAIN /note="Fibronectin type-III 4" TOPO_DOM /note="Extracellular" |
I->T:(0.0 %):LB/B - dbSNP:rs2228046 |
499 | V | E | b | 4.0 | 8d82_C |
|
VILYCFRAMQEST |
DOMAIN /note="Fibronectin type-III 4" TOPO_DOM /note="Extracellular" DOMAIN /note="Fibronectin type-III 4" TOPO_DOM /note="Extracellular" |
V->I:(14.0 %):LB/B - dbSNP:rs3441793 |
Site Table for OMIM:US [2 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 |
200 | A | E | b | 0.0 | 8d82_C |
|
AIVSDEGPY |
DOMAIN /note="Fibronectin type-III 1" TOPO_DOM /note="Extracellular" DOMAIN /note="Fibronectin type-III 1" TOPO_DOM /note="Extracellular" |
A->G:(3.0 %):US - dbSNP:rs1999050 |
415 | T | E | e | 28.6 | 8d82_C |
|
TVESLAGNQRDPFK |
DOMAIN /note="Fibronectin type-III 3" TOPO_DOM /note="Extracellular" DOMAIN /note="Fibronectin type-III 3" TOPO_DOM /note="Extracellular" |
T->I:(0.0 %):US A colorectal cancer sample |