Database STAT2base
Version 1.0
File stat2pub.html
Date 07-Aug-2014
Curator Mauno Vihinen
Address Department of Experimental Medical Science, Lund University
Address BMC D10, SE-221 84 Lund, Sweden
Phone +46 72 526 0022
Fax +46 46 222 0296
Email Mauno.Vihinen@med.lu.se
URL http://structure.bmc.lu.se/idbase/STAT2base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF125.html
Gene STAT2
Disease Growth hormone insensitivity with immunodeficiency
OMIM 600556
Sequence IDRefSeq:C0139; IDRefSeq:D0139;
Sequence UniProt:P52630
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID Intron 4(1a),Intron 4(1a); standard; MUTATION;
Accession S0001
Systematic name Allele 1 and 2: g.5453G>C, c.381+5G>C, r.381+5g>c
Original code V3
Description Allele 1 and 2: A point mutation in the intron 4 leading to
Description aberrant splicing
Date 04-Feb-2013 (Rel. 1, Created)
Date 04-Feb-2013 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef Unpublished
RefAuthors Hambleton, H., Goodbourn, S., Young, D. F., Dickinson, P.,
RefAuthors Mohammad, S. M. B., Valappil, M., McGovern, N., Cant, A.
RefAuthors J., Hackett, S., Ghazal, P., Morgan, N. V., Randall, R. E.
RefTitle STAT2 deficiency and susceptibility to viral illness
RefTitle in humans
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0139: 5453
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0139: 5453
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Fever, rash, conjunctivitis and lymphadenopathy after six
Symptoms days of vaccination; Hepatitis; Pneumonia;
Symptoms Vaccine-strainmeasles;
Age 18 mo
Sex XX
Parents Consanguineous
Relative STAT2base; S0002;brother
Relative STAT2base; S0003;maternal aunt
Relative STAT2base; S0004;cousin
Relative STAT2base; S0005;cousin
Comment Both parents and a healthy sibling were heterozygous
//
ID Intron 4(1b),Intron 4(1b); standard; MUTATION;
Accession S0002
Systematic name Allele 1 and 2: g.5453G>C, c.381+5G>C, r.381+5g>c
Original code V4
Description Allele 1 and 2: A point mutation in the intron 4 leading to
Description aberrant splicing
Date 04-Feb-2013 (Rel. 1, Created)
Date 04-Feb-2013 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef Unpublished
RefAuthors Hambleton, H., Goodbourn, S., Young, D. F., Dickinson, P.,
RefAuthors Mohammad, S. M. B., Valappil, M., McGovern, N., Cant, A.
RefAuthors J., Hackett, S., Ghazal, P., Morgan, N. V., Randall, R. E.
RefTitle STAT2 deficiency and susceptibility to viral illness
RefTitle in humans
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0139: 5453
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0139: 5453
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms 2-d febrile illness; Viral infection postmortem
Age Infant
Sex XY
Parents Consanguineous
Relative STAT2base; S0001; sister
Relative STAT2base; S0003; maternal aunt
Relative STAT2base; S0004; cousin
Relative STAT2base; S0005; cousin
Comment Both parents and a healthy sibling were heterozygous
//
ID Intron 4(1c),Intron 4(1c); standard; MUTATION;
Accession S0003
Systematic name Allele 1 and 2: g.5453G>C, c.381+5G>C, r.381+5g>c
Original code IV3
Description Allele 1 and 2: A point mutation in the intron 4 leading to
Description aberrant splicing
Date 04-Feb-2013 (Rel. 1, Created)
Date 04-Feb-2013 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef Unpublished
RefAuthors Hambleton, H., Goodbourn, S., Young, D. F., Dickinson, P.,
RefAuthors Mohammad, S. M. B., Valappil, M., McGovern, N., Cant, A.
RefAuthors J., Hackett, S., Ghazal, P., Morgan, N. V., Randall, R. E.
RefTitle STAT2 deficiency and susceptibility to viral illness
RefTitle in humans
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0139: 5453
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0139: 5453
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Sex XX
Parents Consanguineous
Relative STAT2base; S0001; niece
Relative STAT2base; S0002; nephew
Relative STAT2base; S0004; daughter
Relative STAT2base; S0005; daughter
Comment Heterozygous brother
//
ID Intron 4(1d),Intron 4(1d); standard; MUTATION;
Accession S0004
Systematic name Allele 1 and 2: g.5453G>C, c.381+5G>C, r.381+5g>c
Original code V6
Description Allele 1 and 2: A point mutation in the intron 4 leading to
Description aberrant splicing
Date 04-Feb-2013 (Rel. 1, Created)
Date 04-Feb-2013 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef Unpublished
RefAuthors Hambleton, H., Goodbourn, S., Young, D. F., Dickinson, P.,
RefAuthors Mohammad, S. M. B., Valappil, M., McGovern, N., Cant, A.
RefAuthors J., Hackett, S., Ghazal, P., Morgan, N. V., Randall, R. E.
RefTitle STAT2 deficiency and susceptibility to viral illness
RefTitle in humans
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0139: 5453
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0139: 5453
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Prolonged febrile encephalitic illness after MMR
Symptoms vaccination
Sex XX
Parents Consanguineous
Relative STAT2base; S0001; cousin
Relative STAT2base; S0002; cousin
Relative STAT2base; S0003; mother
Relative STAT2base; S0005; sister
Comment Father and a sibling were also found to be heterozygous
//
ID Intron 4(1e),Intron 4(1e); standard; MUTATION;
Accession S0005
Systematic name Allele 1 and 2: g.5453G>C, c.381+5G>C, r.381+5g>c
Original code V7
Description Allele 1 and 2: A point mutation in the intron 4 leading to
Description aberrant splicing
Date 04-Feb-2013 (Rel. 1, Created)
Date 04-Feb-2013 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef Unpublished
RefAuthors Hambleton, H., Goodbourn, S., Young, D. F., Dickinson, P.,
RefAuthors Mohammad, S. M. B., Valappil, M., McGovern, N., Cant, A.
RefAuthors J., Hackett, S., Ghazal, P., Morgan, N. V., Randall, R. E.
RefTitle STAT2 deficiency and susceptibility to viral illness
RefTitle in humans
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0139: 5453
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0139: 5453
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Viral illness
Sex XX
Parents Consanguineous
Relative STAT2base; S0001; cousin
Relative STAT2base; S0002; cousin
Relative STAT2base; S0003; mother
Relative STAT2base; S0004; sister
Comment Father and a sibling were also found to be heterozygous
//
//
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