Database IL7Rbase
Version 1.0
File il7rpub.txt
Date 15-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/IL7Rbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF106.html
Gene IL7R
Disease Interleukin 7 receptor deficiency
OMIM 146661
GDB 127886
Sequence IDRefSeq:D0050; IDRefSeq:C0050; UniProt:P16871
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID T66I(1)/I138V(1),T66I(1)/I138V(1); standard; MUTATION;
ID EC/FN-III,EC/FN-III
Accession I0005
Systematic name Allele 1: g.[5012C>T + 15134A>G], c.[219C>T + 434A>G],
Systematic name p.[T66I + I138V]
Systematic name Allele 2: g.[5012C>T + 15134A>G], c.[219C>T + 434A>G],
Systematic name p.[T66I + I138V]
Original code Patient 1
Description Allele 1: point mutation in the exon 2 leading to an amino
Description acid change in the EC domain and point mutation in the
Description exon 4 leading to an amino acid change in the FN-III domain
Description Allele 2: point mutation in the exon 2 leading to an amino
Description acid change in the EC domain and point mutation in the
Description exon 4 leading to an amino acid change in the FN-III domain
Date 08-Apr-2003 (Rel. 1, Created)
Date 08-Apr-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9843216
RefAuthors Puel, A., Ziegler, S. F., Buckley, R. H., Leonard, W. J.
RefTitle Defective IL7R expression in T(-)B(+)NK(+) severe combined
RefTitle immunodeficiency.
RefLoc Nat Genet 20:394-397 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: IDRefSeq: D0050: 5012
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0050: 15134
Feature /change: a -> g
Feature /genomic_region: exon; 4
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: missense
Feature /loc: IDRefSeq: C0050: 219
Feature /codon: acc -> atc; 2
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0050: 434
Feature /codon: atc -> gtc; 1
Feature aa; 5
Feature /rnalink: 3
Feature /name: aa substitution
Feature /loc: UniProt: P16871; IL7RA_HUMAN: 66
Feature /change: T -> I
Feature /domain: EC
Feature aa; 6
Feature /rnalink: 4
Feature /name: aa substitution
Feature /loc: UniProt: P16871; IL7RA_HUMAN: 138
Feature /change: I -> V
Feature /domain: FN-III
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 9
Feature /name: point
Feature /loc: IDRefSeq: D0050: 5012
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature dna; 8
Feature /rnalink: 10
Feature /name: point
Feature /loc: IDRefSeq: D0050: 15134
Feature /change: a -> g
Feature /genomic_region: exon; 4
Feature rna; 9
Feature /dnalink: 7
Feature /aalink: 11
Feature /name: missense
Feature /loc: IDRefSeq: C0050: 219
Feature /codon: acc -> atc; 2
Feature rna; 10
Feature /dnalink: 8
Feature /aalink: 12
Feature /name: missense
Feature /loc: IDRefSeq: C0050: 434
Feature /codon: atc -> gtc; 1
Feature aa; 11
Feature /rnalink: 9
Feature /name: aa substitution
Feature /loc: UniProt: P16871; IL7RA_HUMAN: 66
Feature /change: T -> I
Feature /domain: EC
Feature aa; 12
Feature /rnalink: 10
Feature /name: aa substitution
Feature /loc: UniProt: P16871; IL7RA_HUMAN: 138
Feature /change: I -> V
Feature /domain: FN-III
Sex XY
//
ID T125T(1),T125T(1); standard; MUTATION; EC,EC
Accession I0010
Systematic name Allele 1 and 2: g.11505G>A, c.375G>A, r.375g>a, p.Thr125Thr
Description Allele 1 and 2: a point mutation in the exon 3 leading to
Description an amino acid change in the EC domain
Date 21-Jun-2006 (Rel. 1, Created)
Date 21-Jun-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16492442
RefAuthors Giliani, S., Bonfim, C., de Saint Basile, G., Lanzi, G.,
RefAuthors Brousse, N., Koliski, A., Malvezzi, M., Fischer, A.,
RefAuthors Notarangelo, L. D., Le Deist, F.
RefTitle Omenn syndrome in an infant with IL7RA gene mutation.
RefLoc J Pediatr 148:272-274 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0050: 11505
Feature /change: t -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0050: 397
Feature /codon: act -> aca; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P16871; IL7RA_HUMAN: 125
Feature /change: T -> T
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0050: 11505
Feature /change: t -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0050: 397
Feature /codon: act -> aca; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P16871; IL7RA_HUMAN: 125
Feature /change: T -> T
Feature /domain: EC
Symptoms clinical features of Omenn syndrome
Sex XY
Ethnic origin Brazil
Parents Consanguineous
//
ID P132S(1a),P132S(1a); standard; MUTATION; FN-III,FN-III
Accession I0001
Systematic name Allele 1 and 2: g.15116C>T, c.416C>T, p.P132S
Original code Patient 1
Description Allele 1 and 2: point mutation in the exon 4 leading to an
Description amino acid change in the FN-III domain
Date 30-Oct-2002 (Rel. 1, Created)
Date 30-Oct-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11023514
RefAuthors Roifman, C. M., Zhang, J., Chitayat, D., Sharfe, N.
RefTitle A partial deficiency of interleukin-7R alpha is sufficient
RefTitle to abrogate T-cell development and cause severe combined
RefTitle immunodeficiency.
RefLoc Blood 96:2803-2807 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0050: 15116
Feature /change: c -> t
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0050: 416
Feature /codon: cct -> tct; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P16871; IL7RA_HUMAN: 132
Feature /change: P -> S
Feature /domain: FN-III
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0050: 15116
Feature /change: c -> t
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0050: 416
Feature /codon: cct -> tct; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P16871; IL7RA_HUMAN: 132
Feature /change: P -> S
Feature /domain: FN-III
Sex XY
Ethnic origin Caucasoid; Sicilia
Parents Consanguineous
Relative IL7Rbase; I0002 brother
Relative IL7Rbase; I0003 second cousin
//
ID P132S(1b),P132S(1b); standard; MUTATION; FN-III,FN-III
Accession I0002
Systematic name Allele 1 and 2: g.15116C>T, c.416C>T, p.P132S
Original code Patient 2
Description Allele 1 and 2: point mutation in the exon 4 leading to an
Description amino acid change in the FN-III domain
Date 30-Oct-2002 (Rel. 1, Created)
Date 30-Oct-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11023514
RefAuthors Roifman, C. M., Zhang, J., Chitayat, D., Sharfe, N.
RefTitle A partial deficiency of interleukin-7R alpha is sufficient
RefTitle to abrogate T-cell development and cause severe combined
RefTitle immunodeficiency.
RefLoc Blood 96:2803-2807 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0050: 15116
Feature /change: c -> t
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0050: 416
Feature /codon: cct -> tct; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P16871; IL7RA_HUMAN: 132
Feature /change: P -> S
Feature /domain: FN-III
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0050: 15116
Feature /change: c -> t
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0050: 416
Feature /codon: cct -> tct; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P16871; IL7RA_HUMAN: 132
Feature /change: P -> S
Feature /domain: FN-III
Sex XY
Ethnic origin Caucasoid; Sicilia
Parents Consanguineous
Relative IL7Rbase; I0001 brother
Relative IL7Rbase; I0003 second cousin
//
ID P132S(1c),P132S(1c); standard; MUTATION; FN-III,FN-III
Accession I0003
Systematic name Allele 1 and 2: g.15116C>T, c.416C>T, p.P132S
Original code Patient 3
Description Allele 1 and 2: point mutation in the exon 4 leading to an
Description amino acid change in the FN-III domain
Date 31-Oct-2002 (Rel. 1, Created)
Date 31-Oct-2002 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11023514
RefAuthors Roifman, C. M., Zhang, J., Chitayat, D., Sharfe, N.
RefTitle A partial deficiency of interleukin-7R alpha is sufficient
RefTitle to abrogate T-cell development and cause severe combined
RefTitle immunodeficiency.
RefLoc Blood 96:2803-2807 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0050: 15116
Feature /change: c -> t
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0050: 416
Feature /codon: cct -> tct; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P16871; IL7RA_HUMAN: 132
Feature /change: P -> S
Feature /domain: FN-III
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0050: 15116
Feature /change: c -> t
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0050: 416
Feature /codon: cct -> tct; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P16871; IL7RA_HUMAN: 132
Feature /change: P -> S
Feature /domain: FN-III
Sex XY
Ethnic origin Caucasoid; Sicilia
Parents Consanguineous
Relative IL7Rbase; I0001 second cousin
Relative IL7Rbase; I0002 second cousin
Comment -!-Patient had a succesful HLA matched bone marrow
Comment transplantation
//
ID R206X(1),R206X(1); standard; MUTATION; FN-III,FN-III
Accession I0009
Systematic name Allele 1 and 2: g.17604C>T, c.616C>T, r.616c>u, p.Arg206X
Description Allele 1 and 2: a point mutation in the exon 5 leading to a
Description premature stop codon in the FN-III domain
Date 21-Jun-2006 (Rel. 1, Created)
Date 21-Jun-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15615257
RefAuthors Jo, E. K., Kook, H., Uchiyama, T., Hakozaki, I., Kim, Y.
RefAuthors O., Song, C. H., Park, J. K., Kanegane, H., Tsuchiya, S.,
RefAuthors Kumaki, S.
RefTitle Characterization of a novel nonsense mutation in the
RefTitle interleukin-7 receptor alpha gene in a korean patient with
RefTitle severe combined immunodeficiency.
RefLoc Int J Hematol 80:332-335 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0050: 17604
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: C0050: 638
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P16871; IL7RA_HUMAN: 206
Feature /change: R -> X
Feature /domain: FN-III
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0050: 17604
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: C0050: 638
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P16871; IL7RA_HUMAN: 206
Feature /change: R -> X
Feature /domain: FN-III
Ethnic origin Mongoloid; Korea
//
ID Intron 4(1),W217X(1); standard; MUTATION; ,FN-III
Accession I0004
Systematic name Allele 1: g.IVS4-1G>A
Systematic name Allele 2: g.17639G>A, c.673G>A, p.W217X
Original code Patient 2
Description Allele 1: point mutation in the intron 4 leading to an
Description amino acid change
Description Allele 2: point mutation in the exon 5 leading to a
Description premature stop codon in the FN-III domain
Date 08-Apr-2003 (Rel. 1, Created)
Date 08-Apr-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9843216
RefAuthors Puel, A., Ziegler, S. F., Buckley, R. H., Leonard, W. J.
RefTitle Defective IL7R expression in T(-)B(+)NK(+) severe combined
RefTitle immunodeficiency.
RefLoc Nat Genet 20:394-397 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0050: 17525
Feature /change: g -> a
Feature /genomic_region: intron; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0050: 17639
Feature /change: g -> a
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0050: 673
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P16871; IL7RA_HUMAN: 217
Feature /change: W -> X
Feature /domain: FN-III
Sex XY
//
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