<p>Provides any useful information about the protein, mostly biological knowledge.</p><p><a href='../manual/function_section' target='_top'>More...</a></p>Functionⁱ

Regions

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Specifies the position and type of each <span class="caps">DNA</span>-binding domain present within the protein.</p><p><a href='../manual/dna_bind' target='_top'>More...</a></p>DNA bindingi	47 – 138	92	Fork-headPROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More…</a></p> Manual assertion according to rulesi PROSITE-ProRule:PRU00089			Add BLAST

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

1. DNA binding Source: UniProtKB

   <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ

   • 9769171

2. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: GO_Central
3. RNA polymerase II regulatory region sequence-specific DNA binding Source: NTNU_SB

   <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ

   • 8626802

4. RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: NTNU_SB

   <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ

   • 8626802

5. sequence-specific DNA binding Source: UniProtKB

   <p>Inferred from Sequence or Structural Similarity<br />Used for any analysis based on sequence alignment, structure comparison, or evaluation of sequence features such as composition.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#iss">GO evidence code guide</a></p> Inferred from sequence or structural similarityⁱ

   • 7957066

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Biological processⁱ

1. blood vessel development Source: DFLAT

   <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ

   • 19500772

2. branching involved in open tracheal system development Source: DFLAT

   <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ

   • 19500772

3. cardiac left ventricle morphogenesis Source: DFLAT

   <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ

   • 19500772

4. cellular response to cytokine stimulus Source: Ensembl
5. cellular response to organic cyclic compound Source: Ensembl
6. detection of wounding Source: Ensembl
7. determination of left/right symmetry Source: Ensembl
8. digestive tract development Source: DFLAT

   <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ

   • 19500772

9. ductus arteriosus closure Source: DFLAT

   <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ

   • 19500772

10. embryonic digestive tract morphogenesis Source: DFLAT

    <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ

    • 19500772

11. embryonic ectodermal digestive tract morphogenesis Source: DFLAT

    <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ

    • 19500772

12. embryonic foregut morphogenesis Source: Ensembl
13. endocardial cushion development Source: DFLAT

    <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ

    • 19500772

14. epithelial cell differentiation involved in mammary gland alveolus development Source: Ensembl
15. epithelial tube branching involved in lung morphogenesis Source: Ensembl
16. establishment of epithelial cell apical/basal polarity Source: Ensembl
17. extracellular matrix organization Source: Ensembl
18. heart development Source: DFLAT

    <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ

    • 19500772

19. in utero embryonic development Source: DFLAT

    <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ

    • 19500772

20. lateral mesodermal cell differentiation Source: Ensembl
21. lung alveolus development Source: Ensembl
22. lung development Source: DFLAT

    <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ

    • 19500772

23. lung lobe morphogenesis Source: Ensembl
24. lung vasculature development Source: DFLAT

    <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ

    • 19500772

25. mesenchyme migration Source: Ensembl
26. midgut development Source: DFLAT

    <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ

    • 19500772

27. morphogenesis of a branching structure Source: DFLAT

    <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ

    • 19500772

28. negative regulation of inflammatory response Source: Ensembl
29. negative regulation of mast cell degranulation Source: Ensembl
30. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
31. pancreas development Source: DFLAT

    <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ

    • 19500772

32. positive regulation of cell migration Source: Ensembl
33. positive regulation of cell-substrate adhesion Source: Ensembl
34. positive regulation of mesenchymal cell proliferation Source: Ensembl
35. positive regulation of transcription, DNA-templated Source: UniProtKB

    <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ

    • 8626802
    • 9769171

36. positive regulation of transcription from RNA polymerase II promoter Source: NTNU_SB

    <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ

    • 8626802

37. regulation of smooth muscle cell differentiation Source: Ensembl
38. renal system development Source: DFLAT

    <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ

    • 19500772

39. respiratory tube development Source: DFLAT

    <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ

    • 19500772

40. right lung morphogenesis Source: Ensembl
41. single organismal cell-cell adhesion Source: Ensembl
42. smoothened signaling pathway Source: Ensembl
43. smooth muscle cell differentiation Source: Ensembl
44. somitogenesis Source: Ensembl
45. trachea development Source: Ensembl
46. transcription from RNA polymerase II promoter Source: GOC
47. ureter development Source: DFLAT

    <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ

    • 19500772

48. vasculogenesis Source: Ensembl
49. venous blood vessel development Source: DFLAT

    <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ

    • 19500772

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='../help/keywords' target='_top'>More...</a></p>Keywords - Molecular functionⁱ

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='../help/keywords' target='_top'>More...</a></p>Keywords - Biological processⁱ

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='../help/keywords' target='_top'>More...</a></p>Keywords - Ligandⁱ

Enzyme and pathway databases

<p>Provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.</p><p><a href='../manual/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>Provides information on the location and the topology of the mature protein in the cell.</p><p><a href='../manual/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Cellular componentⁱ

1. nucleus Source: UniProtKB

   <p>Inferred by Curator</p> <p>Used for cases where an annotation is not supported by any evidence but can be reasonably inferred by a curator from other GO annotations for which evidence <br />is available.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ic">GO evidence code guide</a></p> Inferred by curatorⁱ

   • 9769171

2. transcription factor complex Source: ProtInc

   <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementⁱ

   • 9722567

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='../help/keywords' target='_top'>More...</a></p>Keywords - Cellular componentⁱ

<p>Provides information on the disease(s) and phenotype(s) associated with the deficiency of a protein.</p><p><a href='../manual/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechⁱ

<p>Provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim"><span class="caps">OMIM</span></a> database are represented with a <a href="/diseases">controlled vocabulary</a> in the following way:</p><p><a href='../manual/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseaseⁱ

Alveolar capillary dysplasia with misalignment of pulmonary veins2 Publications

<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment inⁱ

• Ref.7

  "Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations."
  Stankiewicz P., Sen P., Bhatt S.S., Storer M., Xia Z., Bejjani B.A., Ou Z., Wiszniewska J., Driscoll D.J., Maisenbacher M.K., Bolivar J., Bauer M., Zackai E.H., McDonald-McGinn D., Nowaczyk M.M., Murray M., Hustead V., Mascotti K.

  , Schultz R., Hallam L., McRae D., Nicholson A.G., Newbury R., Durham-O'Donnell J., Knight G., Kini U., Shaikh T.H., Martin V., Tyreman M., Simonic I., Willatt L., Paterson J., Mehta S., Rajan D., Fitzgerald T., Gribble S., Prigmore E., Patel A., Shaffer L.G., Carter N.P., Cheung S.W., Langston C., Shaw-Smith C.
  Am. J. Hum. Genet. 84:780-791(2009) [PubMed] [Europe PMC] [Abstract]

  Cited for: INVOLVEMENT IN ACDMPV.
• Ref.8

  "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain."
  Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E.

  , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P.
  Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract]

  Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA rare developmental disorder characterized by abnormal development of the capillary vascular system in the lungs. Histological features include failure of formation and ingrowth of alveolar capillaries, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. Affected infants present with respiratory distress and the disease is fatal within the newborn period. Additional features include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs. ACDMPV is a rare cause of persistent pulmonary hypertension of the newborn, an abnormal physiologic state caused by failure of transition of the pulmonary circulation from the high pulmonary vascular resistance of the fetus to the low pulmonary vascular resistance of the newborn.

See also OMIM:265380

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	49 – 49	1	P → Q in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071016
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	49 – 49	1	P → S in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071017
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	52 – 52	1	S → F in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071018
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	53 – 53	1	Y → C in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071019
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	74 – 74	1	I → N in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071020
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	85 – 85	1	F → I in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071021
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	85 – 85	1	F → L in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071022
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	85 – 85	1	F → S in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071023
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	86 – 86	1	R → W in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071024
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	91 – 91	1	G → E in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071025
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	91 – 91	1	G → V in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071026
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	96 – 96	1	V → M in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071027
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	97 – 97	1	R → H in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071028
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	98 – 98	1	H → Q in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071029
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	101 – 101	1	S → L in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071030
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	106 – 106	1	F → L in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071031
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	113 – 119	7	Missing in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071032
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	119 – 119	1	G → D in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071033
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	126 – 126	1	P → L in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071034
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	139 – 139	1	R → L in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071035
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	330 – 330	1	R → W in ACDMPV; unknown pathological significance. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071036

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='../help/keywords' target='_top'>More...</a></p>Keywords - Diseaseⁱ

Organism-specific databases

<p>Describes post-translational modifications (PTMs) and/or processing events.</p><p><a href='../manual/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes the extent of a polypeptide chain in the mature protein following processing.</p><p><a href='../manual/chain' target='_top'>More...</a></p>Chaini	1 – 379	379	Forkhead box protein F1		PRO_0000091832	Add BLAST

Proteomic databases

PTM databases

<p>Provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.</p><p><a href='../manual/expression_section' target='_top'>More...</a></p>Expressionⁱ

<p>Provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.</p><p><a href='../manual/tissue_specificity' target='_top'>More...</a></p>Tissue specificityⁱ

<p>Provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.</p><p><a href='../manual/developmental_stage' target='_top'>More...</a></p>Developmental stageⁱ

Gene expression databases

Organism-specific databases

<p>Provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.</p><p><a href='../manual/interaction_section' target='_top'>More...</a></p>Interactionⁱ

Protein-protein interaction databases

<p>Provides information on the tertiary structure of a protein.</p><p><a href='../manual/structure_section' target='_top'>More...</a></p>Structureⁱ

3D structure databases

<p>Provides information on sequence similarities with other proteins and the domain(s) present in a protein.</p><p><a href='../manual/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

<p>Provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.</p><p><a href='../manual/domain_cc' target='_top'>More...</a></p>Domainⁱ

<p>Provides information about the sequence similarity with other proteins.</p><p><a href='../manual/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesⁱ

Phylogenomic databases

Family and domain databases

<p>Displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including length and molecular weight.</p><p><a href='../manual/sequences_section' target='_top'>More...</a></p>Sequenceⁱ

<p>Indicates if the canonical sequence displayed by default in the entry is complete or not.</p><p><a href='../manual/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

        10         20         30         40         50
MSSAPEKQQP PHGGGGGGGG GGGAAMDPAS SGPSKAKKTN AGIRRPEKPP 
        60         70         80         90        100
YSYIALIVMA IQSSPTKRLT LSEIYQFLQS RFPFFRGSYQ GWKNSVRHNL 
       110        120        130        140        150
SLNECFIKLP KGLGRPGKGH YWTIDPASEF MFEEGSFRRR PRGFRRKCQA 
       160        170        180        190        200
LKPMYSMMNG LGFNHLPDTY GFQGSAGGLS CPPNSLALEG GLGMMNGHLP 
       210        220        230        240        250
GNVDGMALPS HSVPHLPSNG GHSYMGGCGG AAAGEYPHHD SSVPASPLLP 
       260        270        280        290        300
TGAGGVMEPH AVYSGSAAAW PPSASAALNS GASYIKQQPL SPCNPAANPL 
       310        320        330        340        350
SGSLSTHSLE QPYLHQNSHN APAELQGIPR YHSQSPSMCD RKEFVFSFNA 
       360        370 
MASSSMHSAG GGSYYHQQVT YQDIKPCVM                       

<p>Reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.</p><p><a href='../manual/sequence_caution' target='_top'>More...</a></p>Sequence cautionⁱ

Natural variant

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	49 – 49	1	P → Q in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071016
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	49 – 49	1	P → S in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071017
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	52 – 52	1	S → F in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071018
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	53 – 53	1	Y → C in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071019
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	74 – 74	1	I → N in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071020
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	85 – 85	1	F → I in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071021
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	85 – 85	1	F → L in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071022
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	85 – 85	1	F → S in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071023
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	86 – 86	1	R → W in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071024
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	91 – 91	1	G → E in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071025
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	91 – 91	1	G → V in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071026
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	96 – 96	1	V → M in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071027
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	97 – 97	1	R → H in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071028
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	98 – 98	1	H → Q in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071029
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	101 – 101	1	S → L in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071030
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	106 – 106	1	F → L in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071031
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	113 – 119	7	Missing in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071032
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	119 – 119	1	G → D in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071033
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	126 – 126	1	P → L in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071034
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	139 – 139	1	R → L in ACDMPV. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071035
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	330 – 330	1	R → W in ACDMPV; unknown pathological significance. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E. , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P. Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.		VAR_071036

Sequence databases

Genome annotation databases

Polymorphism databases

<p>Is used to point to information related to entries and found in data collections other than UniProtKB.</p><p><a href='../manual/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

<p>Provides links to various web resources that are relevant for a specific protein.</p><p><a href='../manual/web_resource' target='_top'>More...</a></p>Web resourcesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>Contains the literature citations that are the sources of data used to annotate the entry. Each reference is numbered and contains several subsections allowing a precise description of a given citation.</p><p><a href='../manual/publications_section' target='_top'>More...</a></p>Publicationsⁱ

1. "Differential activation of lung-specific genes by two forkhead proteins, FREAC-1 and FREAC-2."
   Hellqvist M., Mahlapuu M., Samuelsson L., Enerbaeck S., Carlsson P.
   J. Biol. Chem. 271:4482-4490(1996) [PubMed] [Europe PMC] [Abstract]
   Cited for: NUCLEOTIDE SEQUENCE [MRNA], PROBABLE FUNCTION.
   Tissue: Lung.
   
2. "FREAC-1 contains a cell-type-specific transcriptional activation domain and is expressed in epithelial-mesenchymal interfaces."
   Mahlapuu M., Pelto-Huikko M., Aitola M., Enerbaeck S., Carlsson P.
   Dev. Biol. 202:183-195(1998) [PubMed] [Europe PMC] [Abstract]
   Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.

   , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
   Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
   Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
   Tissue: Colon.
   
4. "The sequence and analysis of duplication-rich human chromosome 16."
   Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.

   , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
   Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
   Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
   The MGC Project Team
   Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
   Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
   Tissue: Chondrosarcoma.
   
6. "Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending."
   Pierrou S., Hellqvist M., Samuelsson L., Enerbaeck S., Carlsson P.
   EMBO J. 13:5002-5012(1994) [PubMed] [Europe PMC] [Abstract]
   Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
   Tissue: Fetus.
   
7. "Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations."
   Stankiewicz P., Sen P., Bhatt S.S., Storer M., Xia Z., Bejjani B.A., Ou Z., Wiszniewska J., Driscoll D.J., Maisenbacher M.K., Bolivar J., Bauer M., Zackai E.H., McDonald-McGinn D., Nowaczyk M.M., Murray M., Hustead V., Mascotti K.

   , Schultz R., Hallam L., McRae D., Nicholson A.G., Newbury R., Durham-O'Donnell J., Knight G., Kini U., Shaikh T.H., Martin V., Tyreman M., Simonic I., Willatt L., Paterson J., Mehta S., Rajan D., Fitzgerald T., Gribble S., Prigmore E., Patel A., Shaffer L.G., Carter N.P., Cheung S.W., Langston C., Shaw-Smith C.
   Am. J. Hum. Genet. 84:780-791(2009) [PubMed] [Europe PMC] [Abstract]
   Cited for: INVOLVEMENT IN ACDMPV.
8. "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain."
   Sen P., Yang Y., Navarro C., Silva I., Szafranski P., Kolodziejska K.E., Dharmadhikari A.V., Mostafa H., Kozakewich H., Kearney D., Cahill J.B., Whitt M., Bilic M., Margraf L., Charles A., Goldblatt J., Gibson K., Lantz P.E.

   , Garvin A.J., Petty J., Kiblawi Z., Zuppan C., McConkie-Rosell A., McDonald M.T., Peterson-Carmichael S.L., Gaede J.T., Shivanna B., Schady D., Friedlich P.S., Hays S.R., Palafoll I.V., Siebers-Renelt U., Bohring A., Finn L.S., Siebert J.R., Galambos C., Nguyen L., Riley M., Chassaing N., Vigouroux A., Rocha G., Fernandes S., Brumbaugh J., Roberts K., Ho-Ming L., Lo I.F., Lam S., Gerychova R., Jezova M., Valaskova I., Fellmann F., Afshar K., Giannoni E., Muhlethaler V., Liang J., Beckmann J.S., Lioy J., Deshmukh H., Srinivasan L., Swarr D.T., Sloman M., Shaw-Smith C., van Loon R.L., Hagman C., Sznajer Y., Barrea C., Galant C., Detaille T., Wambach J.A., Cole F.S., Hamvas A., Prince L.S., Diderich K.E., Brooks A.S., Verdijk R.M., Ravindranathan H., Sugo E., Mowat D., Baker M.L., Langston C., Welty S., Stankiewicz P.
   Hum. Mutat. 34:801-811(2013) [PubMed] [Europe PMC] [Abstract]
   Cited for: VARIANTS ACDMPV GLN-49; SER-49; PHE-52; CYS-53; ASN-74; ILE-85; LEU-85; SER-85; TRP-86; GLU-91; VAL-91; MET-96; HIS-97; GLN-98; LEU-101; LEU-106; 113-LEU--GLY-119 DEL; ASP-119; LEU-126; LEU-139 AND TRP-330.