Database STAT5Bbase
Version 1.0
File stat5bpub.html
Date 18-Jun-2007
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/STAT5Bbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF125.html
Gene STAT5B
Disease Growth hormone insensitivity with immunodeficiency
OMIM 604260
GDB 5772854
Sequence IDRefSeq:D0082; IDRefSeq:C0082; UniProt:P51692
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID R152X(1),R152X(1); standard; MUTATION;
Accession S0004
Systematic name Allele 1 and 2: g.53986C>T, c.454C>T, r.454c>u, p.Arg152X
Description Allele 1 and 2: A point mutation in the exon 5 leading to a
Description premature stop codon
Date 02-Apr-2007 (Rel. 1, Created)
Date 02-Apr-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17030597
RefAuthors Bernasconi, A., Marino, R., Ribas, A., Rossi, J., Ciaccio,
RefAuthors M., Oleastro, M., Ornani, A., Paz, R., Rivarola, M. A.,
RefAuthors Zelazko, M., Belgorosky, A.
RefTitle Characterization of immunodeficiency in a patient with
RefTitle growth hormone insensitivity secondary to a novel STAT5b
RefTitle gene mutation.
RefLoc Pediatrics:e1584-1592 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0082: 53986
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0082: 623
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P51692; STA5B_HUMAN: 152
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0082: 53986
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0082: 623
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P51692; STA5B_HUMAN: 152
Feature /change: R -> X
Symptoms generalized excema, recurrent severe infections of the skin
Symptoms and respiratory tract that required episodes of
Symptoms hospitalization, recurrent episodes of pneumonia, chronic
Symptoms diarrhea, prolonged varicella complicated with bacterial
Symptoms infection, recurrent herpes zoster keratitis and uveitis of
Symptoms the left eye with progressive loss of visual activity,
Symptoms chronic lung disease with signs of chronic hypoxemia,
Symptoms congenital GH deficiency; persistently low growth rate and
Symptoms severe growth failure, prominent fore-head, saddle nose,
Symptoms and high-pitched voice
Sex XX
Parents Non-consanguineous
//
ID @Q368X376(1),@Q368X376(1); standard; MUTATION;
Accession S0003
Systematic name Allele 1 and 2: g.59246dupC, c.1102dupC, r.1102dupc,
Systematic name p.Gln368fsX8
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 9 leading to a premature stop codon
Date 02-Apr-2007 (Rel. 1, Created)
Date 02-Apr-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16787985
RefAuthors Vidarsdottir, S., Walenkamp, M. J., Pereira, A. M.,
RefAuthors Karperien, M., van Doorn, J., van Duyvenvoorde, H. A.,
RefAuthors White, S., Breuning, M. H., Roelfsema, F., Kruithof, M.
RefAuthors F., van Dissel, J., Janssen, R., Wit, J. M., Romijn, J. A.
RefTitle Clinical and biochemical characteristics of a male patient
RefTitle with a novel homozygous STAT5b mutation.
RefLoc J Clin Endocrinol Metab:3482-3485 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0082: 59247
Feature /change: +c
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0082: 1272
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P51692; STA5B_HUMAN: 368
Feature /change: Q -> PGEGHHHQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0082: 59247
Feature /change: +c
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0082: 1272
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P51692; STA5B_HUMAN: 368
Feature /change: Q -> PGEGHHHQX
Symptoms short stature, congenital ichthyosis, hemorrhagic
Symptoms chickenbox
Sex XY
Ethnic origin Caucasoid; Dutch Antilles
Parents Non-consanguineous
Comment no signs of immunodeficiency
//
ID @N398X413(1),@N398X413(1); standard; MUTATION;
Accession S0002
Systematic name Allele 1 and 2: g.60021dupG, c.1191dupG, r.1191dupg,
Systematic name p.Asn398fsX15
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 10 leading to a premature stop codon
Date 28-Sep-2005 (Rel. 1, Created)
Date 28-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15827093
RefAuthors Hwa, V., Little, B., Adiyaman, P., Kofoed, E. M., Pratt,
RefAuthors K. L., Ocal, G., Berberoglu, M., Rosenfeld, R. G.
RefTitle Severe growth hormone insensitivity resulting from total
RefTitle absence of signal transducer and activator of
RefTitle transcription 5b.
RefLoc J Clin Endocrinol Metab 90:4260-4266 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0082: 60022
Feature /change: +g
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0082: 1361
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P51692; STA5B_HUMAN: 398
Feature /change: N -> EQLLRHGVPP SHRHPX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0082: 60022
Feature /change: +g
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0082: 1361
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P51692; STA5B_HUMAN: 398
Feature /change: N -> EQLLRHGVPP SHRHPX
Symptoms Severe growth failure, a history of pruritic skin lesions
Symptoms and recurrent pulmonary infections
Sex XX
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
//
ID A630P(1),A630P(1); standard; MUTATION; SH2,SH2
Accession S0001
Systematic name Allele 1 and 2: g.67275G>C, c.1888G>C, r.1888g>c,
Systematic name p.Ala630Pro
Description Allele 1 and 2: a point mutation in the exon 15 leading to
Description an amino acid change in the SH2 domain
Date 16-Feb-2004 (Rel. 1, Created)
Date 16-Feb-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 13679528
RefAuthors Kofoed, E. M., Hwa, V., Little, B., Woods, K. A., Buckway,
RefAuthors C. K., Tsubaki, J., Pratt, K. L., Bezrodnik, L., Jasper,
RefAuthors H., Tepper, A., Heinrich, J. J., Rosenfeld, R. G.
RefTitle Growth hormone insensitivity associated with a STAT5b
RefTitle mutation.
RefLoc N Engl J Med 349:1139-1147 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0082: 67275
Feature /change: g -> c
Feature /genomic_region: exon; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0082: 2057
Feature /codon: gct -> cct; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P51692; STA5B_HUMAN: 630
Feature /change: A -> P
Feature /domain: SH2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0082: 67275
Feature /change: g -> c
Feature /genomic_region: exon; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0082: 2057
Feature /codon: gct -> cct; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P51692; STA5B_HUMAN: 630
Feature /change: A -> P
Feature /domain: SH2
Symptoms Respiratory difficulties with oxygen requirements, lymphoid
Symptoms interstitial pneumonia, multiple episodes of bronchial
Symptoms obstruction, hemorrhagic varicella, several episodes of
Symptoms herpes zoster. Patient had a prominent forehead, a saddle
Symptoms nose and a high-pitched voice.
Sex XX
Ethnic origin Argentine
Parents Consanguineous
//
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