Database MAPBPIPbase
Version 1.0
File mapbpippub.html
Date 21-Aug-2008
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics
Address Lund University, BMC D10, SE-22184 Lund, Sweden
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/MAPBPIPbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF161.html
Gene MAPBPIP
Disease Endosomal adaptor protein p14 deficiency
OMIM 610389
Sequence IDRefSeq:D0123; IDRefSeq:C0123; UniProt:Q9Y2Q5
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry;
//
ID Downstream(1a),Downstream(1a); standard; MUTATION;
Accession M0001
Systematic name Allele 1 and 2: g.4581C>A, c.401C>A, r.401c>a, p.134
Original code #5
Description Allele 1 and 2: A point mutation in the 3´ untranslated
Description region (UTR) in exon 4 leading to decreased protein
Description expression
Date 16-Apr-2007 (Rel. 1, Created)
Date 16-Apr-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17195838
RefAuthors Bohn, G., Allroth, A., Brandes, G., Thiel, J., Glocker,
RefAuthors E., Schaffer, A. A., Rathinam, C., Taub, N., Teis, D.,
RefAuthors Zeidler, C., Dewey, R. A., Geffers, R., Buer, J., Huber,
RefAuthors L. A., Welte, K., Grimbacher, B., Klein, C.
RefTitle A novel human primary immunodeficiency syndrome caused by
RefTitle deficiency of the endosomal adaptor protein p14.
RefLoc Nat Med:38-45 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0123: 4581
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: downstream
Feature /loc: IDRefSeq: C0123: 477
Feature aa; 3
Feature /rnalink: 2
Feature /name: no change
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0123: 4581
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: downstream
Feature /loc: IDRefSeq: C0123: 477
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms short stature, hypopigmented skin, coarse facial features,
Symptoms and recurrent bronchopulmonary infections by Streptococcus
Symptoms pneumoniae
Sex XY
Ethnic origin Caucasoid
Parents Consanguineous
Relative MAPBPIPbase; M0002; sister
Relative MAPBPIPbase; M0003; brother
Relative MAPBPIPbase; M0004; sister
//
ID Downstream(1b),Downstream(1b); standard; MUTATION;
Accession M0002
Systematic name Allele 1 and 2: g.4581C>A, c.401C>A, r.401c>a, p.134
Original code #10
Description Allele 1 and 2: A point mutation in the 3´ untranslated
Description region (UTR) in exon 4 leading to decreased protein
Description expression
Date 16-Apr-2007 (Rel. 1, Created)
Date 16-Apr-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17195838
RefAuthors Bohn, G., Allroth, A., Brandes, G., Thiel, J., Glocker,
RefAuthors E., Schaffer, A. A., Rathinam, C., Taub, N., Teis, D.,
RefAuthors Zeidler, C., Dewey, R. A., Geffers, R., Buer, J., Huber,
RefAuthors L. A., Welte, K., Grimbacher, B., Klein, C.
RefTitle A novel human primary immunodeficiency syndrome caused by
RefTitle deficiency of the endosomal adaptor protein p14.
RefLoc Nat Med:38-45 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0123: 4581
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: downstream
Feature /loc: IDRefSeq: C0123: 477
Feature aa; 3
Feature /rnalink: 2
Feature /name: no change
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0123: 4581
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: downstream
Feature /loc: IDRefSeq: C0123: 477
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms short stature, hypopigmented skin, coarse facial features,
Symptoms and recurrent bronchopulmonary infections by Streptococcus
Symptoms pneumoniae
Sex XX
Ethnic origin Caucasoid
Parents Consanguineous
Relative MAPBPIPbase; M0001; brother
Relative MAPBPIPbase; M0003; brother
Relative MAPBPIPbase; M0004; sister
//
ID Downstream(1c),Downstream(1c); standard; MUTATION;
Accession M0003
Systematic name Allele 1 and 2: g.4581C>A, c.401C>A, r.401c>a, p.134
Original code #12
Description Allele 1 and 2: A point mutation in the 3´ untranslated
Description region (UTR) in exon 4 leading to decreased protein
Description expression
Date 16-Apr-2007 (Rel. 1, Created)
Date 16-Apr-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17195838
RefAuthors Bohn, G., Allroth, A., Brandes, G., Thiel, J., Glocker,
RefAuthors E., Schaffer, A. A., Rathinam, C., Taub, N., Teis, D.,
RefAuthors Zeidler, C., Dewey, R. A., Geffers, R., Buer, J., Huber,
RefAuthors L. A., Welte, K., Grimbacher, B., Klein, C.
RefTitle A novel human primary immunodeficiency syndrome caused by
RefTitle deficiency of the endosomal adaptor protein p14.
RefLoc Nat Med:38-45 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0123: 4581
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: downstream
Feature /loc: IDRefSeq: C0123: 477
Feature aa; 3
Feature /rnalink: 2
Feature /name: no change
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0123: 4581
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: downstream
Feature /loc: IDRefSeq: C0123: 477
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms short stature, hypopigmented skin, coarse facial features,
Symptoms and recurrent bronchopulmonary infections by Streptococcus
Symptoms pneumoniae
Sex XY
Ethnic origin Caucasoid
Parents Consanguineous
Relative MAPBPIPbase; M0001; brother
Relative MAPBPIPbase; M0002; sister
Relative MAPBPIPbase; M0004; sister
//
ID Downstream(1d),Downstream(1d); standard; MUTATION;
Accession M0004
Systematic name Allele 1 and 2: g.4581C>A, c.401C>A, r.401c>a, p.134
Original code #13
Description Allele 1 and 2: A point mutation in the 3´ untranslated
Description region (UTR) in exon 4 leading to decreased protein
Description expression
Date 16-Apr-2007 (Rel. 1, Created)
Date 16-Apr-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17195838
RefAuthors Bohn, G., Allroth, A., Brandes, G., Thiel, J., Glocker,
RefAuthors E., Schaffer, A. A., Rathinam, C., Taub, N., Teis, D.,
RefAuthors Zeidler, C., Dewey, R. A., Geffers, R., Buer, J., Huber,
RefAuthors L. A., Welte, K., Grimbacher, B., Klein, C.
RefTitle A novel human primary immunodeficiency syndrome caused by
RefTitle deficiency of the endosomal adaptor protein p14.
RefLoc Nat Med:38-45 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0123: 4581
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: downstream
Feature /loc: IDRefSeq: C0123: 477
Feature aa; 3
Feature /rnalink: 2
Feature /name: no change
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0123: 4581
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: downstream
Feature /loc: IDRefSeq: C0123: 477
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Symptoms short stature, hypopigmented skin, coarse facial features,
Symptoms and recurrent bronchopulmonary infections by Streptococcus
Symptoms pneumoniae
Sex XX
Ethnic origin Caucasoid
Parents Consanguineous
Relative MAPBPIPbase; M0001; brother
Relative MAPBPIPbase; M0002; sister
Relative MAPBPIPbase; M0003; brother
//
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