Difference between revisions of "Hemochromatosis"

From Bioinformatikpedia
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  +
==Secondary Structure==
−
[[File:Hfe_mutation_small.jpg|frame|HFE-Protein(blue) in complex with beta-microglobulin(cyan). The cystein at position 282 is highlighted in red and its disulfide interaction partner in orange. Source: PDB ID 1A6Z, visualized with PyMOL]]
  
   
  +
In this task, secondary structure of proteins is predicted using the programs reProf and PsiPred. The results are then compared to the DSSP secondary structure assignments from corresponding crystal structures in the PDB. Thus, the following crystal structures were selected for comparison. The first priority for selection was to get the protein in its native state and not bound to another molecule. The other criteria were the quality of the structure and the alignment to the protein sequence(having one continous segment).
  +
{| style="text-align: center; border-collapse: collapse"
  +
! colspan="3" style="width: 33%;border-style: solid;border-width: 0px 0px 1px 0px"| Uniprot || colspan="4" style="width: 33%;border-style: solid;border-width: 0px 0px 1px 1px"| PDB
  +
|-
  +
! UID || Name || Length ||style="border-style: solid;border-width: 0px 0px 0px 1px"| ID || Resolution || Chain || Length
  +
|-
  +
| Q30201 ||style="text-align: left"| Hereditary hemochromatosis protein || 348 ||style="border-style: solid;border-width: 0px 0px 0px 1px"|A16Z || 2.60 || A || 275
  +
|-
  +
| P10775 ||style="text-align: left"| Ribonuclease inhibitor || 456 ||style="border-style: solid;border-width: 0px 0px 0px 1px"|2BNH || 2.30 || A || 457
  +
|-
  +
| Q9X0E6 ||style="text-align: left"| Divalent-cation tolerance protein CutA || 101 ||style="border-style: solid;border-width: 0px 0px 0px 1px"|1VHF || 1.54|| A || 113
  +
|-
  +
| Q08209 ||style="text-align: left"| CAM-PRP catalytic subunit || 521||style="border-style: solid;border-width: 0px 0px 0px 1px"| 1M63 || 2.80 || A || 372
  +
|}
   
−
'''Hemochromatosis''' is a hereditary disorder that leads to an increased intestinal iron uptake from food. The excess iron is stored in the parenchymal cells of organs and tissues and thus disrupts their normal function. There are various genotypes that can lead to hemochromatosis. The most common form of the disease is caused by a point mutation in the HFE gene. '''HFE''' stands for '''H'''igh '''FE'''rrum.
  
   
−
== Phenotype ==
  
   
  +
In the next step, the output of the prediction programs and the DSSP assignments have to be made comparable. DSSP assigns 8 different classes of secondary structure, whereas reProf and PsiPred only predict helix(H), sheet(E) and loop(L or C). Therefore,
−
Clinical symptoms include:
  
  +
H and G are mapped to H, E to E and all other DSSP classes to C.
   
  +
DSSP: http://swift.cmbi.ru.nl/gv/dssp/
−
*tiredness
  
  +
SOV:http://www.bio.ifi.lmu.de/files/Lehre/PRK_GoBi/material/home/Literatur/ZemlaVFR99.pdf
−
*joint and bone pain
  
  +
<math>Q_3 = /frac{correct predictions}{all predictions} = frac{TP+FP}{TP + TN + FP + FN}</math>
−
*destructive arthritis
  
   
  +
{| style="text-align: center; border-collapse: collapse; border: 1px solid #000"
−
*liver fibrosis and cirrhosis, increased risk to develop hepatocellular carcinoma
  
  +
!colspan="16" style="border-style: solid; border-width: 0px 0px 1px 0px"|Prediction methods
−
*Glucose intolerance and insulin resistance due to damages in the pancreas (diabetes mellitus).
  
  +
|-
  +
|
  +
!colspan="3" style="width: 19%;border-style: solid;border-width: 0px 1px 1px 0px"|Reprof + Sequence
  +
!colspan="3" style="width: 19%;border-style: solid;border-width: 0px 1px 1px 1px"|Reprof + Big80
  +
!colspan="3" style="width: 19%;border-style: solid;border-width: 0px 1px 1px 1px"|Reprof + SwissProt
  +
!colspan="3" style="width: 19%;border-style: solid;border-width: 0px 1px 1px 1px"|Reprof + PDB
  +
!colspan="3" style="width: 19%;border-style: solid;border-width: 0px 1px 1px 1px"|Psipred
  +
|-
  +
| style="border-style: solid; border-width: 1px 1px 1px 0px"|Q3
  +
|colspan="3" style="border-style: solid; border-width: 0px 1px 0px 0px"|0.76
  +
|colspan="3" style="border-style: solid; border-width: 0px 1px 0px 0px"|0.81
  +
!colspan="3" style="border-style: solid; border-width: 0px 1px 0px 0px"|0.86
  +
|colspan="3" style="border-style: solid; border-width: 0px 1px 0px 0px"|0.84
  +
|colspan="3" style="border-style: solid; border-width: 0px 0px 0px 0px"|0.84
  +
|-
  +
| style="border-style: solid; border-width: 1px 1px 1px 0px"|SOV3
  +
|colspan="3" style="border-style: solid; border-width: 0px 1px 1px 0px"|0.66
  +
|colspan="3" style="border-style: solid; border-width: 0px 1px 1px 0px"|0.75
  +
!colspan="3" style="border-style: solid; border-width: 0px 1px 1px 0px"|0.84
  +
|colspan="3" style="border-style: solid; border-width: 0px 1px 1px 0px"|0.84
  +
|colspan="3" style="border-style: solid; border-width: 0px 0px 1px 0px"|0.73
  +
|-
  +
| style="border-style: solid; border-width: 0px 1px 0px 0px"|
  +
| Acc
  +
| Cov
  +
| style="border-style: solid; border-width: 0px 1px 0px 0px"|F1
  +
| Acc
  +
| Cov
  +
| style="border-style: solid; border-width: 0px 1px 0px 0px"|F1
  +
| Acc
  +
| Cov
  +
| style="border-style: solid; border-width: 0px 1px 0px 0px"|F1
  +
| Acc
  +
| Cov
  +
| style="border-style: solid; border-width: 0px 1px 0px 0px"|F1
  +
| Acc
  +
| Cov
  +
| style="border-style: solid; border-width: 0px 1px 0px 0px"|F1
  +
|-
  +
|style="border-style: solid; border-width: 0px 1px 0px 0px"| H
  +
|0.63
  +
|0.33
  +
|style="border-style: solid; border-width: 0px 1px 0px 0px"|0.44
  +
|0.74
  +
|0.48
  +
|style="border-style: solid; border-width: 0px 1px 0px 0px"|0.59
  +
|0.84
  +
|0.65
  +
|style="border-style: solid; border-width: 0px 1px 0px 0px"|0.74
  +
|0.85
  +
|0.52
  +
|style="border-style: solid; border-width: 0px 1px 0px 0px"|0.64
  +
|0.98
  +
|0.77
  +
!0.86
  +
|-
  +
|style="border-style: solid; border-width: 0px 1px 0px 0px"| C
  +
|0.57
  +
|0.69
  +
!style="border-style: solid; border-width: 0px 1px 0px 0px"|0.86
  +
|0.63
  +
|0.75
  +
|style="border-style: solid; border-width: 0px 1px 0px 0px"|0.68
  +
|0.68
  +
|0.81
  +
|style="border-style: solid; border-width: 0px 1px 0px 0px"|0.74
  +
|0.64
  +
|0.83
  +
|style="border-style: solid; border-width: 0px 1px 0px 0px"|0.72
  +
|0.61
  +
|0.95
  +
|0.74
  +
|-
  +
|style="border-style: solid; border-width: 0px 1px 0px 0px"| E
  +
|0.79
  +
|0.63
  +
|style="border-style: solid; border-width: 0px 1px 0px 0px"|0.70
  +
|0.81
  +
|0.84
  +
|style="border-style: solid; border-width: 0px 1px 0px 0px"|0.83
  +
|0.89
  +
|0.86
  +
!style="border-style: solid; border-width: 0px 1px 0px 0px"|0.87
  +
|0.88
  +
|0.85
  +
|style="border-style: solid; border-width: 0px 1px 0px 0px"|0.86
  +
|0.94
  +
|0.55
  +
|0.69
  +
|}
   
  +
{| style="text-align: center; border-collapse: collapse; border: 0px solid #000"
−
*Gonadal dysfunction, hypogonadism and decreased libido.
  
  +
!width="12%" style="border-style: solid; border-width: 0px 0px 1px 0px"| Protein ||style="border-style: solid; border-width: 0px 0px 1px 0px"| Method ||style="border-style: solid; border-width: 0px 0px 1px 0px"| Q3 ||style="border-style: solid; border-width: 0px 0px 1px 0px"| SOV3
−  
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*heart failure, arrhythmias or pericarditisheart failure
  
−  
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*grey or dark cutaneous (skin) pigmentation
  
−  
−  
−
The hemocromatosis phenotype and its harmfulness varies in patients with the same disease causing mutation. Symptoms are caused by a high, toxic iron accumulation in parenchymal cells of important organs, like the heart, the liver or the endocrine glands.
 
−
The disease is usually diagnosed in middle aged patients, because the iron accumulates over time and severe symptoms are not immidiately apparent.
 
−
Depending on which organs are affected most by the increased iron uptake, the symptoms range from simple biochemical abnormalities to severe diseases such as heart failure and liver cirrhosis.
  
−  
−
The individual phenotype varies that much, because the genetic background only gives a predisposition to hemochromatosis. Human and environmental factors play an important role as well.
  
−
In general, male indiviuals that have the genetic predisposition, have a higher probability of developing hemochromatosis, supposedly because females have an overall higher iron loss due to menstruation.
 
−  
−
=== Cross references ===
  
−
see also the description in
  
−  
−
[http://en.wikipedia.org/wiki/Hereditary_haemochromatosis, Wikipedia on hemochromatosis]<br>
  
−
[http://omim.org/entry/235200, OMIM entry 235200]<br>
  
−
[http://www.gastrojournal.org/article/S0016-5085%2810%2900872-3/fulltext, A. Pietrangelo, Hereditary Hemochromatosis: Pathogenesis, Diagnosis, and Treatment; Gastroenterology 2010]<br>
  
−  
−  
−
== Pathophysiology ==
  
−  
−
=== The role of iron in the body ===
  
−  
−
Iron is the 4th most common element in the world. In nature, it normally occurs in its oxidized form Fe<sup>3+</sup>, that is unsoluble in water. That is, why iron in humans mostly occurs complexed. Free, water soluble iron ions that appear in the reduced form Fe<sup>2+</sup>, are toxic because they can react with H<sub>2</sub>O<sub>2</sub> to produce highly reactive hydroxy radicals that damage membranes, proteins and nucleic acids.
  
−
Nevertheless, iron plays a crucial role in the human body. It binds to hemoglobin as a cofactor and enables oxygen transport. The total amount of iron in the body ranges from 3000mg-5000mg, whereby around 65% are bound to hemoglobin and the rest is either bound to other proteins as cofactor or stored in cells as reservoir.
  
−
Iron is only removed from the body through blood loss, sweating or shedding of mucosal or skin cells. This amounts to an average of 1 mg per day for men and 1.5-2 mg per day for women. Women lose more iron, because they regularly loose blood due to menstruation. The amount of iron in a healthy human is kept constant by the regulatory mechanisms of the body. This means that only as much, as the organism looses, is taken up.
  
−  
−
[[File:Small_intestine_anatomy.jpg|frame|Detailed illustration of the anatomy of the small intestine where iron resorption takes place. Source: http://www.edoctoronline.com/media/19/photos_88EB3125-5618-45A8-BA5D-2834A502C2E1.jpg]]
  
−  
−
Iron is only able to enter the human body in the small intestine. The main part is taken up in the duodenum and the resorbtion decreases linearly towards the ileum(end of the small intestine).
  
−
The iron in the lumen of the small intestine is transported into the enterocytes through the divalent metal transporter(DMT-1).
  
−
There, the iron is either stored inside the cell in complex with the ferritin protein or it is released into the bloodstream via ferroportin(FPN-1), where it immediately forms a complex with transportin. The amount of iron that enters the bloodstream highly depends on the expression level of FPN-1. The enterocytes are regularly depleted and thus the iron that they have stored is lost.
 
−  
−
The iron-transferrin complex in the blood plasma binds to the Transferrin Receptors 1 and 2(TfR) that the parenchymal cells of the liver express. These receptors start a signalling pathway involving the HFE-protein that activates the production of hepcidin. Although there are some theories about this pathway, it is not resolved yet. Hepcidin is a protein that is responsible for the downregulation of iron entry into the bloodstream, because it initiates the degradation of FPN-1. Therefore, the release of iron into the blood plasma is decreased.
  
−
 
−  
−  
−
[[File:ironMetabolism.jpg|frame|Illustration of the iron uptake into the blood and its regulation. Source: http://ars.els-cdn.com/content/image/1-s2.0-S0021997512001570-gr1.jpg]]
  
−  
−
===Disease Mechanism===
  
−
In the most common variant of hemochromatosis, a point mutation in the HFE gene disrupts the hepcidin production pathway. The iron resorption is increased and it accumulates in the body. At some point the body cannot store more iron in the cells and Fe<sup>2+</sup> occurs unbound in the bloodstream which damages the body.
  
−  
−
Thus, patients do not suffer from a perturbance of the iron metabolism, which works normal, but from an increased iron uptake into the blood.
  
−  
−  
−
== Genetics and Inheritance==
  
−  
−
There are several different types of hemochromatosis. Each type is connected to defects in the iron uptake regulation through hepcidin. The most common and less severe type is caused by a mutation in the HFE gene on chromosome 6. The other types are rare and based on a mutations in the TfR2 gene or, in the case of juvenile hemochromatosis, mutations in the HJV or HAMP (hepcidin) gene. Mutations in the FPN(Ferroportin) gene can also result in hemachromatosis like symptoms, but this type is often termed ferroportin disease. The mutations leads to a hepcidin resistance and thus to an iron hyperabsorbtion from the diet, although the hepcidin production is not impaired in this patients.
  
−  
−
Homozygosity for one of the above mentioned mutations only results in a certain predisposition to hemochromatosis, but not all persons with this genetic background develop the disease. It depends on other factors that influence the iron metabolism, such as abusive drinking.
  
−  
−  
−
{| border="1"
  
−
|+ Characterisation of the various forms of hemochromatosis
  
−
! form !! male/female !! age !! non-/caucasian
  
 
|-
  
|-
  +
|rowspan="2" style="border-style: solid; border-width: 0px 0px 1px 0px"| Q08209 || ReProf || 0.83 || 0.78
−
! HFE
  
−
| male || 40-50 years||caucasian
 
 
|-
  
|-
  +
|style="border-style: solid; border-width: 0px 0px 1px 0px"| Psipred ||style="border-style: solid; border-width: 0px 0px 1px 0px"| 0.87 ||style="border-style: solid; border-width: 0px 0px 1px 0px"| 0.79
−
! TfR2
  
−
| male or female|| 30-40 years||caucasian or non-caucasian
  
 
|-
  
|-
  +
|rowspan="2" style="border-style: solid; border-width: 0px 0px 1px 0px"| Q30201 || ReProf || 0.86 || 0.84
−
!HJV, HAMP
  
−
| male or female|| 15-20 years||caucasian or non-caucasian
 
 
|-
  
|-
  +
|style="border-style: solid; border-width: 0px 0px 1px 0px"| Psipred ||style="border-style: solid; border-width: 0px 0px 1px 0px"| 0.84 ||style="border-style: solid; border-width: 0px 0px 1px 0px"| 0.73
−
! Ferroportin disease
  
  +
|-
−
| male or female || 10-80 years||caucasian or non-caucasian
  
  +
|rowspan="2" style="border-style: solid; border-width: 0px 0px 1px 0px"| P10775 || ReProf || 0.91 || 0.93
  +
|-
  +
|style="border-style: solid; border-width: 0px 0px 1px 0px"| Psipred ||style="border-style: solid; border-width: 0px 0px 1px 0px"| 0.93 ||style="border-style: solid; border-width: 0px 0px 1px 0px"| 0.94
  +
|-
  +
|rowspan="2" style="border-style: solid; border-width: 0px 0px 1px 0px"| Q9X0E6 || ReProf || 0.75 || 0.65
  +
|-
  +
|style="border-style: solid; border-width: 0px 0px 1px 0px"| Psipred ||style="border-style: solid; border-width: 0px 0px 1px 0px"| 0.89 ||style="border-style: solid; border-width: 0px 0px 1px 0px"| 0.86
 
|}
  
|}
−  
−
Hemochromatosis is an autosomal recessive inherited disorder with reduced penetrance in females.
 
−
The HFE C282Y mutation is very common with a homozygozity prevalence of 1:200 to 1:300 in white persons, this is why it is a polymorphism rather than a disease mutation. But among Asians, Hispanics or black persons, it is much less common.
  
−
Roughly 80% of northern European hemachromatosis patients are homozygous for HFE C282Y. A Celtic or Vikin ancester was probably the first person having the mutation. Since hemochromatisis does not affect reproduction, the mutation spread through populations. The reported allel frequency of C282Y ranges from 12.5% in Ireland to 0% in southern Europe, but the mean frequency among white individuals is 6%.
  
−  
−
[[File:chr6.gif|frame|Chromosome 6, source: http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/hfe.shtml]]
  
−  
−
H63D is anothe HFE polymorphism with less geographic distribution and a higher prevalence of 14%, but it has nearly no penetrance.
  
−
The S65C polymorphism is associated with high iron levels when it is inherited together with C282Y on one allele.
  
−  
−
All the other non-HFE hemochromatosis types are spread throughout the world, independent of any race, but they are much rarer.
  
−
In 50% of families with a case of juvenile hemachromatose has the G320V mutation in the HJV gene been detected.
  
−  
−
This wiki entry focuses on the HFE C282Y mutation, because it is the most common cause for hemachromatosis in northern Europe.
  
−  
−
=== HFE C282Y ===
  
−  
−
The HFE gene is located on chromosome 6 on the short arm (p) in region 21.3 (6p21.3) and consists of 7 exons spanning 12 kb.
  
−
It encodes for the HFE protein, which is a membrane protein similar to the MHC class I proteins and therefore HFE associates with beta2-microglobulin. The HFE-beta2-microglobulin complex binds to the transferrin receptor 2 (TfR2).
  
−  
−
A guanin to adenine transition at position 845 in the HFE gene lead to the C282Y substitiution in the protein sequence.
 
−
This missense mutation affects a highly conserved cystein in the alpha-3 loop of the HFE protein that normally forms a disulfide bond in the unmutated protein.(see picture above) The tyrosine in the mutated protein therefore disrupts the structure and prevents the binding of HFE to beta-2-microglobulin.
  
−  
−
=== Cross references ===
  
−
see also the description in
  
−  
−
[http://omim.org/entry/613609, OMIM entry 613609]<br>
  
−
[http://omim.org/entry/235200, OMIM entry 235200]<br>
  
−
[http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFE&search=HFE&suff=txt, Gene cards]
  
−  
−
== Mutations ==
  
−  
−
Each of the above mentioned different types of hemochromatosis is caused by a different mutation.
  
−  
−
HFE: C282Y, H63D<br>
  
−
TfR2: Y250X (nonsense mutation, it truncates TfR2 at amoino acid 250)<br>
  
−
HJV: G320V<br>
  
−
HAMP: several, no specific<br>
  
−
FPN: C326S and C326Y<br>
  
−  
−
=== Reference sequence ===
  
−
Protein sequence:
  
−  
−
>gi|1890180|emb|CAB07442.1| HFE [Homo sapiens]
  
−
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEP
  
−
RTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGY
  
−
DGQDHLEFCPDTLDWRAAEPRAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLV
  
−
KVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRY
  
−
TCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYVLAERE
  
−  
−
Source: [http://www.ncbi.nlm.nih.gov/protein/1890180?report=fasta, NCBI id 1890180]
  
−  
−  
−
== Diagnosis and Treatment ==
  
−  
−
[[File:diagnosis_algorithm.png|frame|Algorithm for the diagnosis of hemochromatosis. Source: http://www.gastrojournal.org/article/S0016-5085%2810%2900872-3/fulltext]]
  
−  
−
Hemochromatosis is diagnosed in patients with an unnormal high transferrin saturation (TS) and, in later stages, increased serum ferritin levels. The transferrin saturation denotes the concentration of free iron in proportion to the concentration of transferrin in the blood serum. However, the diagnosis should always be supported by a gene test for HFE C282Y homyozygocity. Inflammation, metabolic disorders, diabetes mellitus, alcohol abuse and liver cell necrosis can also lead to an increased serum ferritin level.
  
−
On the other hand, a finding of normal serum ferritin level always excludes hemochromatosis.
  
−  
−
Since iron can only be removed from the system by blood loss, the only possible treatment is phlebotomy (bloodletting). It is aimed to reduce the iron content in the body.
 
−
The first step of the iron-depletion treatment is to induce a slightly iron-deficient state in the body. Therfore, 400-500 ml blood are removed weekly. After 1 to 2 years a serum ferritin level of 20-50 μg/l is reached.
 
−
In the long term, a maintenance therapy with two to four phlebotomies a year is then enough to keep the serum ferritin level between 50-100 μg/l. A low iron diet can also help to keep the amount of resorbed iron low.
 
−  
−
The life expectancy of diagnosed and treated hemochromatosis patients without complications is comparable to that of the normal population. But early diagnosis and initation of therapy is crucial for preventing organ damage and increasing the life expectancy.
  
−  
   
   
  +
[[Hemochromatosis SS Alignments]]
−
== Resources ==
  
−
The entry is based on several resources:
  
   
  +
==Disorder==
−
[http://www.gastrojournal.org/article/S0016-5085%2810%2900872-3/fulltext, A. Pietrangelo, Hereditary Hemochromatosis: Pathogenesis, Diagnosis, and Treatment; Gastroenterology 2010]<br>
  
−
http://omim.org/entry/613609<br>
  
−
http://omim.org/entry/235200<br>
  
−
http://en.wikipedia.org/wiki/Hereditary_haemochromatosis<br>
  
−
http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFE&search=HFE&suff=txt
  
   
  +
==Transmembrane Helices==
   
−
== Tasks ==
 +
==Signal Peptides==
   
  +
==GO Terms==
−
[[Task 2: Alignments]]<br>
  
−
[[Hemochromatosis:_Sequence_based_predictions|Task 3:Sequence based predictions]]<br>
  
−
[[Task 4: Structural Alignments]] <br>
  

Revision as of 18:43, 29 May 2013

Secondary Structure

In this task, secondary structure of proteins is predicted using the programs reProf and PsiPred. The results are then compared to the DSSP secondary structure assignments from corresponding crystal structures in the PDB. Thus, the following crystal structures were selected for comparison. The first priority for selection was to get the protein in its native state and not bound to another molecule. The other criteria were the quality of the structure and the alignment to the protein sequence(having one continous segment).

Uniprot PDB
UID Name Length ID Resolution Chain Length
Q30201 Hereditary hemochromatosis protein 348 A16Z 2.60 A 275
P10775 Ribonuclease inhibitor 456 2BNH 2.30 A 457
Q9X0E6 Divalent-cation tolerance protein CutA 101 1VHF 1.54 A 113
Q08209 CAM-PRP catalytic subunit 521 1M63 2.80 A 372


In the next step, the output of the prediction programs and the DSSP assignments have to be made comparable. DSSP assigns 8 different classes of secondary structure, whereas reProf and PsiPred only predict helix(H), sheet(E) and loop(L or C). Therefore, H and G are mapped to H, E to E and all other DSSP classes to C.

DSSP: http://swift.cmbi.ru.nl/gv/dssp/ SOV:http://www.bio.ifi.lmu.de/files/Lehre/PRK_GoBi/material/home/Literatur/ZemlaVFR99.pdf <math>Q_3 = /frac{correct predictions}{all predictions} = frac{TP+FP}{TP + TN + FP + FN}</math>

Prediction methods
Reprof + Sequence Reprof + Big80 Reprof + SwissProt Reprof + PDB Psipred
Q3 0.76 0.81 0.86 0.84 0.84
SOV3 0.66 0.75 0.84 0.84 0.73
Acc Cov F1 Acc Cov F1 Acc Cov F1 Acc Cov F1 Acc Cov F1
H 0.63 0.33 0.44 0.74 0.48 0.59 0.84 0.65 0.74 0.85 0.52 0.64 0.98 0.77 0.86
C 0.57 0.69 0.86 0.63 0.75 0.68 0.68 0.81 0.74 0.64 0.83 0.72 0.61 0.95 0.74
E 0.79 0.63 0.70 0.81 0.84 0.83 0.89 0.86 0.87 0.88 0.85 0.86 0.94 0.55 0.69
Protein Method Q3 SOV3
Q08209 ReProf 0.83 0.78
Psipred 0.87 0.79
Q30201 ReProf 0.86 0.84
Psipred 0.84 0.73
P10775 ReProf 0.91 0.93
Psipred 0.93 0.94
Q9X0E6 ReProf 0.75 0.65
Psipred 0.89 0.86


Hemochromatosis SS Alignments

Disorder

Transmembrane Helices

Signal Peptides

GO Terms

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