Database CARD9base
Version 1.0
File card9pub.html
Date 08-Apr-2013
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics, University of Tampere,
Address FIN-33014 Tampere, Finland
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/CARD9base/
Gene CARD9
Disease Chronic mucocutaneous candidiasis
OMIM 607212
Sequence IdRefSeq:D0138; IdRefSeq:C0138;
Sequence UniProt:Q9H257
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Funding Finnish Academy
Comments sequence entry reference in every entry
//
ID Q295X(1a),Q295X(1a); standard; MUTATION;
Accession C0001
Systematic name Allele 1 and 2: g.4320C>T, c.883C>T, r.883c>u, p.Gln295X
Original code 2B2
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon
Date 28-Sep-2010 (Rel. 1, Created)
Date 28-Sep-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19864672
RefAuthors Glocker, E. O., Hennigs, A., Nabavi, M., Schaffer, A. A.,
RefAuthors Woellner, C., Salzer, U., Pfeifer, D., Veelken, H.,
RefAuthors Warnatz, K., Tahami, F., Jamal, S., Manguiat, A., Rezaei,
RefAuthors N., Amirzargar, A. A., Plebani, A., Hannesschlager, N.,
RefAuthors Gross, O., Ruland, J., Grimbacher, B.
RefTitle A homozygous CARD9 mutation in a family with
RefTitle susceptibility to fungal infections.
RefLoc N Engl J Med:1727-1735 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: Ensembl: D0138: 4320
Feature /change: c -> t
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: GenBank: C0138; GI:47717131; : 1049
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9H257; CARD9_HUMAN: 295
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: Ensembl: D0138: 4320
Feature /change: c -> t
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: GenBank: C0138; GI:47717131; : 1049
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9H257; CARD9_HUMAN: 295
Feature /change: Q -> X
Symptoms Oral candidiasis;
Sex XY
Age 19
Ethnic origin Iran
Relative CARD9base; C0002 brother
Relative CARD9base; C0003 mother
Relative CARD9base; C0004 maternal aunt
Relative CARD9base; C0005 maternal uncle
Relative CARD9base; C0006 cousin
Relative CARD9base; C0007 cousin
Parents Consanguineous
//
ID Q295X(1b),Q295X(1b); standard; MUTATION;
Accession C0002
Systematic name Allele 1 and 2: g.4320C>T, c.883C>T, r.883c>u, p.Gln295X
Original code 2B1
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon
Date 28-Sep-2010 (Rel. 1, Created)
Date 28-Sep-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19864672
RefAuthors Glocker, E. O., Hennigs, A., Nabavi, M., Schaffer, A. A.,
RefAuthors Woellner, C., Salzer, U., Pfeifer, D., Veelken, H.,
RefAuthors Warnatz, K., Tahami, F., Jamal, S., Manguiat, A., Rezaei,
RefAuthors N., Amirzargar, A. A., Plebani, A., Hannesschlager, N.,
RefAuthors Gross, O., Ruland, J., Grimbacher, B.
RefTitle A homozygous CARD9 mutation in a family with
RefTitle susceptibility to fungal infections.
RefLoc N Engl J Med:1727-1735 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: Ensembl: D0138: 4320
Feature /change: c -> t
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: GenBank: C0138; GI:47717131; : 1049
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9H257; CARD9_HUMAN: 295
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: Ensembl: D0138: 4320
Feature /change: c -> t
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: GenBank: C0138; GI:47717131; : 1049
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9H257; CARD9_HUMAN: 295
Feature /change: Q -> X
Symptoms Intermittent thrush; Seizure; Hydrocephalus;
Sex XY
Ethnic origin Iran
Relative CARD9base; C0001 brother
Relative CARD9base; C0003 mother
Relative CARD9base; C0004 maternal aunt
Relative CARD9base; C0005 maternal uncle
Relative CARD9base; C0006 cousin
Relative CARD9base; C0007 cousin
Parents Consanguineous
Comment Patient died of candida meningitis at 19 years age
//
ID Q295X(1c),Q295X(1c); standard; MUTATION;
Accession C0003
Systematic name Allele 1 and 2: g.4320C>T, c.883C>T, r.883c>u, p.Gln295X
Original code 2M
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon
Date 28-Sep-2010 (Rel. 1, Created)
Date 28-Sep-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19864672
RefAuthors Glocker, E. O., Hennigs, A., Nabavi, M., Schaffer, A. A.,
RefAuthors Woellner, C., Salzer, U., Pfeifer, D., Veelken, H.,
RefAuthors Warnatz, K., Tahami, F., Jamal, S., Manguiat, A., Rezaei,
RefAuthors N., Amirzargar, A. A., Plebani, A., Hannesschlager, N.,
RefAuthors Gross, O., Ruland, J., Grimbacher, B.
RefTitle A homozygous CARD9 mutation in a family with
RefTitle susceptibility to fungal infections.
RefLoc N Engl J Med:1727-1735 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: Ensembl: D0138: 4320
Feature /change: c -> t
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: GenBank: C0138; GI:47717131; : 1049
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9H257; CARD9_HUMAN: 295
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: Ensembl: D0138: 4320
Feature /change: c -> t
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: GenBank: C0138; GI:47717131; : 1049
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9H257; CARD9_HUMAN: 295
Feature /change: Q -> X
Symptoms Vaginal candidiasis; Dermatophytosis; Aphthous Lesions;
Symptoms Diabetes mellitus; Nephrolithiasis;
Sex XX
Age 42
Ethnic origin Iran
Relative CARD9base; C0001 son
Relative CARD9base; C0002 son
Relative CARD9base; C0004 sister
Relative CARD9base; C0005 brother
Relative CARD9base; C0006 niece
Relative CARD9base; C0007 niece
Parents Consanguineous
//
ID Q295X(1d),Q295X(1d); standard; MUTATION;
Accession C0004
Systematic name Allele 1 and 2: g.4320C>T, c.883C>T, r.883c>u, p.Gln295X
Original code 1M
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon
Date 28-Sep-2010 (Rel. 1, Created)
Date 28-Sep-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19864672
RefAuthors Glocker, E. O., Hennigs, A., Nabavi, M., Schaffer, A. A.,
RefAuthors Woellner, C., Salzer, U., Pfeifer, D., Veelken, H.,
RefAuthors Warnatz, K., Tahami, F., Jamal, S., Manguiat, A., Rezaei,
RefAuthors N., Amirzargar, A. A., Plebani, A., Hannesschlager, N.,
RefAuthors Gross, O., Ruland, J., Grimbacher, B.
RefTitle A homozygous CARD9 mutation in a family with
RefTitle susceptibility to fungal infections.
RefLoc N Engl J Med:1727-1735 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: Ensembl: D0138: 4320
Feature /change: c -> t
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: GenBank: C0138; GI:47717131; : 1049
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9H257; CARD9_HUMAN: 295
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: Ensembl: D0138: 4320
Feature /change: c -> t
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: GenBank: C0138; GI:47717131; : 1049
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9H257; CARD9_HUMAN: 295
Feature /change: Q -> X
Symptoms Vaginal candidiasis; Tinea corporis;
Sex XX
Ethnic origin Iran
Relative CARD9base; C0001 nephew
Relative CARD9base; C0002 nephew
Relative CARD9base; C0003 sister
Relative CARD9base; C0005 brother
Relative CARD9base; C0006 niece
Relative CARD9base; C0007 niece
Parents Consanguineous
//
ID Q295X(1e),Q295X(1e); standard; MUTATION;
Accession C0005
Systematic name Allele 1 and 2: g.4320C>T, c.883C>T, r.883c>u, p.Gln295X
Original code 5F
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon
Date 28-Sep-2010 (Rel. 1, Created)
Date 28-Sep-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19864672
RefAuthors Glocker, E. O., Hennigs, A., Nabavi, M., Schaffer, A. A.,
RefAuthors Woellner, C., Salzer, U., Pfeifer, D., Veelken, H.,
RefAuthors Warnatz, K., Tahami, F., Jamal, S., Manguiat, A., Rezaei,
RefAuthors N., Amirzargar, A. A., Plebani, A., Hannesschlager, N.,
RefAuthors Gross, O., Ruland, J., Grimbacher, B.
RefTitle A homozygous CARD9 mutation in a family with
RefTitle susceptibility to fungal infections.
RefLoc N Engl J Med:1727-1735 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: Ensembl: D0138: 4320
Feature /change: c -> t
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: GenBank: C0138; GI:47717131; : 1049
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9H257; CARD9_HUMAN: 295
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: Ensembl: D0138: 4320
Feature /change: c -> t
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: GenBank: C0138; GI:47717131; : 1049
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9H257; CARD9_HUMAN: 295
Feature /change: Q -> X
Symptoms Dermatophytosis;
Sex XY
Ethnic origin Iran
Relative CARD9base; C0001 nephew
Relative CARD9base; C0002 nephew
Relative CARD9base; C0003 sister
Relative CARD9base; C0004 sister
Relative CARD9base; C0006 daughter
Relative CARD9base; C0007 daughter
Parents Consanguineous
//
ID Q295X(1f),Q295X(1f); standard; MUTATION;
Accession C0006
Systematic name Allele 1 and 2: g.4320C>T, c.883C>T, r.883c>u, p.Gln295X
Original code 5G1
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon
Date 28-Sep-2010 (Rel. 1, Created)
Date 28-Sep-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19864672
RefAuthors Glocker, E. O., Hennigs, A., Nabavi, M., Schaffer, A. A.,
RefAuthors Woellner, C., Salzer, U., Pfeifer, D., Veelken, H.,
RefAuthors Warnatz, K., Tahami, F., Jamal, S., Manguiat, A., Rezaei,
RefAuthors N., Amirzargar, A. A., Plebani, A., Hannesschlager, N.,
RefAuthors Gross, O., Ruland, J., Grimbacher, B.
RefTitle A homozygous CARD9 mutation in a family with
RefTitle susceptibility to fungal infections.
RefLoc N Engl J Med:1727-1735 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: Ensembl: D0138: 4320
Feature /change: c -> t
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: GenBank: C0138; GI:47717131; : 1049
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9H257; CARD9_HUMAN: 295
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: Ensembl: D0138: 4320
Feature /change: c -> t
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: GenBank: C0138; GI:47717131; : 1049
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9H257; CARD9_HUMAN: 295
Feature /change: Q -> X
Symptoms Ventricular septal defect; Geographic tongue;
Sex XX
Ethnic origin Iran
Relative CARD9base; C0001 cousin
Relative CARD9base; C0002 cousin
Relative CARD9base; C0003 paternal aunt
Relative CARD9base; C0004 paternal aunt
Relative CARD9base; C0005 father
Relative CARD9base; C0007 sister
Parents Consanguineous
Comment Patient died of severe skull destruction at age 15
//
ID Q295X(1g),Q295X(1g); standard; MUTATION;
Accession C0007
Systematic name Allele 1 and 2: g.4320C>T, c.883C>T, r.883c>u, p.Gln295X
Original code 5G2
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon
Date 28-Sep-2010 (Rel. 1, Created)
Date 28-Sep-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19864672
RefAuthors Glocker, E. O., Hennigs, A., Nabavi, M., Schaffer, A. A.,
RefAuthors Woellner, C., Salzer, U., Pfeifer, D., Veelken, H.,
RefAuthors Warnatz, K., Tahami, F., Jamal, S., Manguiat, A., Rezaei,
RefAuthors N., Amirzargar, A. A., Plebani, A., Hannesschlager, N.,
RefAuthors Gross, O., Ruland, J., Grimbacher, B.
RefTitle A homozygous CARD9 mutation in a family with
RefTitle susceptibility to fungal infections.
RefLoc N Engl J Med:1727-1735 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: Ensembl: D0138: 4320
Feature /change: c -> t
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: GenBank: C0138; GI:47717131; : 1049
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9H257; CARD9_HUMAN: 295
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: Ensembl: D0138: 4320
Feature /change: c -> t
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: GenBank: C0138; GI:47717131; : 1049
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9H257; CARD9_HUMAN: 295
Feature /change: Q -> X
Symptoms Recurrent severe refractory thrust; Fever; Diplopia;
Symptoms Candida meningoencephalitis;
Sex XX
Ethnic origin Iran
Relative CARD9base; C0001 cousin
Relative CARD9base; C0002 cousin
Relative CARD9base; C0003 paternal aunt
Relative CARD9base; C0004 paternal aunt
Relative CARD9base; C0005 father
Relative CARD9base; C0006 sister
Parents Consanguineous
Comment Patient died 6 months after onset of symptoms
//
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