Database RFX5base
Version 1.0
File rfx5pub.txt
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/RFX5base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF13.html
Gene RFX5
Disease MHCII promoter X box regulatory factor 5 deficiency
OMIM 601863
GDB 6288464
Sequence IDRefSeq:D0073; IDRefSeq:C0073; UniProt:P48382
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID R149Q(1a),R149Q(1a); standard; MUTATION;
Accession R0007
Systematic name Allele 1 and 2: g.32168G>A, c.607G>A, p.R149Q
Original code KEN
Description Allele 1 and 2: point mutation in the exon 6 leading to an
Description amino acid change
Date 14-Mar-2003 (Rel. 1, Created)
Date 14-Mar-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12368908
RefAuthors Nekrep, N., Jabrane-Ferrat, N., Wolf, H. M., Eibl, M. M.,
RefAuthors Geyer, M., Peterlin, B. M.
RefTitle Mutation in a winged-helix DNA-binding motif causes
RefTitle atypical bare lymphocyte syndrome.
RefLoc Nat Immunol 3:1075-1081 (2002)
RefNumber [2]
RefCrossRef PUBMED; 7699327
RefAuthors Hauber, I., Gulle, H., Wolf, H. M., Maris, M., Eggenbauer,
RefAuthors H., Eibl, M. M.
RefTitle Molecular characterization of major histocompatibility
RefTitle complex class II gene expression and demonstration of
RefTitle antigen-specific T cell response indicate a new phenotype
RefTitle in class II-deficient patients.
RefLoc J Exp Med 181:1411-1423 (1995)
RefNumber [3]
RefCrossRef PUBMED; 7990905
RefAuthors Wolf, H. M., Hauber, I., Gulle, H., Thon, V., Eggenbauer,
RefAuthors H., Fischer, M. B., Fiala, S., Eibl, M. M.
RefTitle Brief report: twin boys with major histocompatibility
RefTitle complex class II deficiency but inducible immune
RefTitle responses.
RefLoc N Engl J Med 332:86-90 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0073: 32168
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0073: 607
Feature /codon: cga -> caa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P48382; RFX5_HUMAN: 149
Feature /change: R -> Q
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0073: 32168
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0073: 607
Feature /codon: cga -> caa; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P48382; RFX5_HUMAN: 149
Feature /change: R -> Q
Symptoms Infections:
Symptoms Bacterial: pneumonia
Symptoms Other clinical features: febrile seizures,
Symptoms hypogammaglobulinemia
Treatment IVIG: constant
IgA <3 mg/dl, compare with normal for age: low
IgG 132 mg/dl, compare with normal for age: low
IgM 80 mg/dl, compare with normal for age: normal
Sex XY
Ethnic origin Turkey
Relative RFX5base; R0008 twin brother
//
ID R149Q(1b),R149Q(1b); standard; MUTATION;
Accession R0008
Systematic name Allele 1 and 2: g.32168G>A, c.607G>A, p.R149Q
Original code KER
Description Allele 1 and 2: point mutation in the exon 6 leading to an
Description amino acid change
Date 14-Mar-2003 (Rel. 1, Created)
Date 14-Mar-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12368908
RefAuthors Nekrep, N., Jabrane-Ferrat, N., Wolf, H. M., Eibl, M. M.,
RefAuthors Geyer, M., Peterlin, B. M.
RefTitle Mutation in a winged-helix DNA-binding motif causes
RefTitle atypical bare lymphocyte syndrome.
RefLoc Nat Immunol 3:1075-1081 (2002)
RefNumber [2]
RefCrossRef PUBMED; 7699327
RefAuthors Hauber, I., Gulle, H., Wolf, H. M., Maris, M., Eggenbauer,
RefAuthors H., Eibl, M. M.
RefTitle Molecular characterization of major histocompatibility
RefTitle complex class II gene expression and demonstration of
RefTitle antigen-specific T cell response indicate a new phenotype
RefTitle in class II-deficient patients.
RefLoc J Exp Med 181:1411-1423 (1995)
RefNumber [3]
RefCrossRef PUBMED; 7990905
RefAuthors Wolf, H. M., Hauber, I., Gulle, H., Thon, V., Eggenbauer,
RefAuthors H., Fischer, M. B., Fiala, S., Eibl, M. M.
RefTitle Brief report: twin boys with major histocompatibility
RefTitle complex class II deficiency but inducible immune
RefTitle responses.
RefLoc N Engl J Med 332:86-90 (1995)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0073: 32168
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0073: 607
Feature /codon: cga -> caa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P48382; RFX5_HUMAN: 149
Feature /change: R -> Q
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0073: 32168
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0073: 607
Feature /codon: cga -> caa; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P48382; RFX5_HUMAN: 149
Feature /change: R -> Q
IgM 20 mg/dl, compare with normal for age: low
Sex XY
Ethnic origin Turkey
Relative RFX5base; R0007 twinbrother
//
ID R294X(1),R294X(1); standard; MUTATION;
Accession R0001
Systematic name Allele 1 and 2: g.33455C>T, c.1041C>T, p.R294X
Original code Ro
Description Allele 1 and 2: point mutation in the exon 10 leading to a
Description premature stop codon
Date 27-Jan-2003 (Rel. 1, Created)
Date 27-Jan-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7744245
RefAuthors Steimle, V., Durand, B., Barras, E., Zufferey, M., Hadam,
RefAuthors M. R., Mach, B., Reith, W.
RefTitle A novel DNA-binding regulatory factor is mutated in
RefTitle primary MHC class II deficiency (bare lymphocyte
RefTitle syndrome).
RefLoc Genes Dev 9:1021-1032 (1995)
RefNumber [2]
RefCrossRef PUBMED; 11704716
RefAuthors Villard, J., Masternak, K., Lisowska-Grospierre, B.,
RefAuthors Fischer, A., Reith, W.
RefTitle MHC class II deficiency: a disease of gene regulation.
RefLoc Medicine (Baltimore) 80:405-418 (2001)
RefNumber [3]
RefCrossRef PUBMED; 11037300
RefAuthors Vihinen, M., Arredondo-Vega, F. X., Casanova, J. L.,
RefAuthors Etzioni, A., Giliani, S., Hammarstrom, L., Hershfield, M.
RefAuthors S., Heyworth, P. G., Hsu, A. P., Lahdesmaki, A.,
RefAuthors Lappalainen, I., Notarangelo, L. D., Puck, J. M., Reith,
RefAuthors W., Roos, D., Schumacher, R. F., Schwarz, K., Vezzoni, P.,
RefAuthors Villa, A., Valiaho, J., Smith, C. I.
RefTitle Primary immunodeficiency mutation databases.
RefLoc Adv Genet 43:103-188 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0073: 33455
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0073: 1041
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P48382; RFX5_HUMAN: 294
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0073: 33455
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0073: 1041
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P48382; RFX5_HUMAN: 294
Feature /change: R -> X
//
ID Q321X(1),Q321X(1); standard; MUTATION;
Accession R0005
Systematic name Allele 1 and 2: g.33536C>T, c.1122C>T, p.Q321X
Original code SSI
Description Allele 1 and 2: point mutation in the exon 10 leading to a
Description premature stop codon
Date 28-Jan-2003 (Rel. 1, Created)
Date 28-Jan-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10079298
RefAuthors Peijnenburg, A., Van Eggermond, M. C., Van den Berg, R.,
RefAuthors Sanal, O., Vossen, J. M., Van den Elsen, P. J.
RefTitle Molecular analysis of an MHC class II deficiency patient
RefTitle reveals a novel mutation in the RFX5 gene.
RefLoc Immunogenetics 49:338-345 (1999)
RefNumber [2]
RefCrossRef PUBMED; 11704716
RefAuthors Villard, J., Masternak, K., Lisowska-Grospierre, B.,
RefAuthors Fischer, A., Reith, W.
RefTitle MHC class II deficiency: a disease of gene regulation.
RefLoc Medicine (Baltimore) 80:405-418 (2001)
RefNumber [3]
RefCrossRef PUBMED; 11037300
RefAuthors Vihinen, M., Arredondo-Vega, F. X., Casanova, J. L.,
RefAuthors Etzioni, A., Giliani, S., Hammarstrom, L., Hershfield, M.
RefAuthors S., Heyworth, P. G., Hsu, A. P., Lahdesmaki, A.,
RefAuthors Lappalainen, I., Notarangelo, L. D., Puck, J. M., Reith,
RefAuthors W., Roos, D., Schumacher, R. F., Schwarz, K., Vezzoni, P.,
RefAuthors Villa, A., Valiaho, J., Smith, C. I.
RefTitle Primary immunodeficiency mutation databases.
RefLoc Adv Genet 43:103-188 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0073: 33536
Feature /change: c -> t
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0073: 1122
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P48382; RFX5_HUMAN: 321
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0073: 33536
Feature /change: c -> t
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0073: 1122
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P48382; RFX5_HUMAN: 321
Feature /change: Q -> X
//
ID Intron 2(1a),Intron 2(1a); standard; MUTATION;
Accession R0003
Systematic name Allele 1 and 2: g.IVS2+5G>A
Original code EVF
Description Allele 1 and 2: point mutation in the intron 2 leading to a
Description 10 nucleotide deletion in the exon 2 leading to a
Description premature stop codon
Date 28-Jan-2003 (Rel. 1, Created)
Date 28-Jan-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9401005
RefAuthors Villard, J., Reith, W., Barras, E., Gos, A., Morris, M.
RefAuthors A., Antonarakis, S. E., Van den Elsen, P. J., Mach, B.
RefTitle Analysis of mutations and chromosomal localisation of the
RefTitle gene encoding RFX5, a novel transcription factor affected
RefTitle in major histocompatibility complex class II deficiency.
RefLoc Hum Mutat 10:430-435 (1997)
RefNumber [2]
RefCrossRef PUBMED; 11704716
RefAuthors Villard, J., Masternak, K., Lisowska-Grospierre, B.,
RefAuthors Fischer, A., Reith, W.
RefTitle MHC class II deficiency: a disease of gene regulation.
RefLoc Medicine (Baltimore) 80:405-418 (2001)
RefNumber [3]
RefCrossRef PUBMED; 11037300
RefAuthors Vihinen, M., Arredondo-Vega, F. X., Casanova, J. L.,
RefAuthors Etzioni, A., Giliani, S., Hammarstrom, L., Hershfield, M.
RefAuthors S., Heyworth, P. G., Hsu, A. P., Lahdesmaki, A.,
RefAuthors Lappalainen, I., Notarangelo, L. D., Puck, J. M., Reith,
RefAuthors W., Roos, D., Schumacher, R. F., Schwarz, K., Vezzoni, P.,
RefAuthors Villa, A., Valiaho, J., Smith, C. I.
RefTitle Primary immunodeficiency mutation databases.
RefLoc Adv Genet 43:103-188 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0073: 30412
Feature /change: g -> a
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0073: 268..277
Feature /change: -gtaccatttc
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P48382; RFX5_HUMAN: 36..39
Feature /change: GTIS -> ARPCRTKX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0073: 30412
Feature /change: g -> a
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0073: 268..277
Feature /change: -gtaccatttc
Feature /inexloc: +5
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P48382; RFX5_HUMAN: 36..39
Feature /change: GTIS -> ARPCRTKX
Relative RFX5base; R0004 sibling
//
ID Intron 2(1b),Intron 2(1b); standard; MUTATION;
Accession R0004
Systematic name Allele 1 and 2: g.IVS2+5G>A
Original code THF
Description Allele 1 and 2: point mutation in the intron 2 leading to a
Description 10 nucleotide deletion in the exon 2 leading to a
Description premature stop codon
Date 28-Jan-2003 (Rel. 1, Created)
Date 28-Jan-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9401005
RefAuthors Villard, J., Reith, W., Barras, E., Gos, A., Morris, M.
RefAuthors A., Antonarakis, S. E., Van den Elsen, P. J., Mach, B.
RefTitle Analysis of mutations and chromosomal localisation of the
RefTitle gene encoding RFX5, a novel transcription factor affected
RefTitle in major histocompatibility complex class II deficiency.
RefLoc Hum Mutat 10:430-435 (1997)
RefNumber [2]
RefCrossRef PUBMED; 11704716
RefAuthors Villard, J., Masternak, K., Lisowska-Grospierre, B.,
RefAuthors Fischer, A., Reith, W.
RefTitle MHC class II deficiency: a disease of gene regulation.
RefLoc Medicine (Baltimore) 80:405-418 (2001)
RefNumber [3]
RefCrossRef PUBMED; 11037300
RefAuthors Vihinen, M., Arredondo-Vega, F. X., Casanova, J. L.,
RefAuthors Etzioni, A., Giliani, S., Hammarstrom, L., Hershfield, M.
RefAuthors S., Heyworth, P. G., Hsu, A. P., Lahdesmaki, A.,
RefAuthors Lappalainen, I., Notarangelo, L. D., Puck, J. M., Reith,
RefAuthors W., Roos, D., Schumacher, R. F., Schwarz, K., Vezzoni, P.,
RefAuthors Villa, A., Valiaho, J., Smith, C. I.
RefTitle Primary immunodeficiency mutation databases.
RefLoc Adv Genet 43:103-188 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0073: 30412
Feature /change: g -> a
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0073: 268..277
Feature /change: -gtaccatttc
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P48382; RFX5_HUMAN: 36..39
Feature /change: GTIS -> ARPCRTKX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0073: 30412
Feature /change: g -> a
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0073: 268..277
Feature /change: -gtaccatttc
Feature /inexloc: +5
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P48382; RFX5_HUMAN: 36..39
Feature /change: GTIS -> ARPCRTKX
Relative RFX5base; R0003 sibling
//
ID Intron 3(1),Intron 3(1); standard; MUTATION;
Accession R0006
Systematic name Allele 1 and 2: g.IVS3-1G>A
Original code OSE
Description Allele 1 and 2: point mutation in the intron 3 leading to a
Description deletion of the first 4 nucleotides of exon 4 from the mRNA
Description leading to a premature stop codon
Date 28-Jan-2003 (Rel. 1, Created)
Date 28-Jan-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10079298
RefAuthors Peijnenburg, A., Van Eggermond, M. C., Van den Berg, R.,
RefAuthors Sanal, O., Vossen, J. M., Van den Elsen, P. J.
RefTitle Molecular analysis of an MHC class II deficiency patient
RefTitle reveals a novel mutation in the RFX5 gene.
RefLoc Immunogenetics 49:338-345 (1999)
RefNumber [2]
RefCrossRef PUBMED; 11704716
RefAuthors Villard, J., Masternak, K., Lisowska-Grospierre, B.,
RefAuthors Fischer, A., Reith, W.
RefTitle MHC class II deficiency: a disease of gene regulation.
RefLoc Medicine (Baltimore) 80:405-418 (2001)
RefNumber [3]
RefCrossRef PUBMED; 11037300
RefAuthors Vihinen, M., Arredondo-Vega, F. X., Casanova, J. L.,
RefAuthors Etzioni, A., Giliani, S., Hammarstrom, L., Hershfield, M.
RefAuthors S., Heyworth, P. G., Hsu, A. P., Lahdesmaki, A.,
RefAuthors Lappalainen, I., Notarangelo, L. D., Puck, J. M., Reith,
RefAuthors W., Roos, D., Schumacher, R. F., Schwarz, K., Vezzoni, P.,
RefAuthors Villa, A., Valiaho, J., Smith, C. I.
RefTitle Primary immunodeficiency mutation databases.
RefLoc Adv Genet 43:103-188 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0073: 31423
Feature /change: g -> a
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0073: 312..315
Feature /change: -caag
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P48382; RFX5_HUMAN: 51..52
Feature /change: QD -> MYRNFLTMTS CISTFSSPQD PPLETKAQSQ VHX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0073: 31423
Feature /change: g -> a
Feature /genomic_region: intron; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0073: 312..315
Feature /change: -caag
Feature /inexloc: -1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P48382; RFX5_HUMAN: 51..52
Feature /change: QD -> MYRNFLTMTS CISTFSSPQD PPLETKAQSQ VHX
//
ID Intron 4(1),?; standard; MUTATION;
Accession R0002
Systematic name Allele 1: g.IVS4-1G>A
Original code SJO
Description Allele 1: point mutation in the intron 4 leading to a
Description deletion of the first 5 nucleotides of exon 5 from the mRNA
Description leading to a premature stop codon
Description Allele 2: Not identified
Date 28-Jan-2003 (Rel. 1, Created)
Date 28-Jan-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7744245
RefAuthors Steimle, V., Durand, B., Barras, E., Zufferey, M., Hadam,
RefAuthors M. R., Mach, B., Reith, W.
RefTitle A novel DNA-binding regulatory factor is mutated in
RefTitle primary MHC class II deficiency (bare lymphocyte
RefTitle syndrome).
RefLoc Genes Dev 9:1021-1032 (1995)
RefNumber [2]
RefCrossRef PUBMED; 11704716
RefAuthors Villard, J., Masternak, K., Lisowska-Grospierre, B.,
RefAuthors Fischer, A., Reith, W.
RefTitle MHC class II deficiency: a disease of gene regulation.
RefLoc Medicine (Baltimore) 80:405-418 (2001)
RefNumber [3]
RefCrossRef PUBMED; 11037300
RefAuthors Vihinen, M., Arredondo-Vega, F. X., Casanova, J. L.,
RefAuthors Etzioni, A., Giliani, S., Hammarstrom, L., Hershfield, M.
RefAuthors S., Heyworth, P. G., Hsu, A. P., Lahdesmaki, A.,
RefAuthors Lappalainen, I., Notarangelo, L. D., Puck, J. M., Reith,
RefAuthors W., Roos, D., Schumacher, R. F., Schwarz, K., Vezzoni, P.,
RefAuthors Villa, A., Valiaho, J., Smith, C. I.
RefTitle Primary immunodeficiency mutation databases.
RefLoc Adv Genet 43:103-188 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0073: 31764
Feature /change: g -> a
Feature /genomic_region: intron; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0073: 395..399
Feature /change: -ctcag
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P48382; RFX5_HUMAN: 78..80
Feature /change: SSE -> RAKYTEQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
//
//
|
