Database RFXAPbase
Version 1.0
File rfxappub.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/RFXAPbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF14.html
Gene RFXAP
Disease Regulatory factor X-associated protein deficiency
OMIM 601861
GDB 9475355
Sequence IDRefSeq:D0075; IDRefSeq:C0075; UNIprot:O00287
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID @P12X74(1a),@P12X74(1a); standard; MUTATION;
Accession R0006
Systematic name Allele 1 and 2: g.52509_52510insGCGGGGC,
Systematic name c.150_151insGCGGGGC, p.P12fsX74
Original code ShA; @G11X73
Description Allele 1 and 2: insertion in the exon 1 leading to a
Description premature stop codon
Date 08-Jan-2003 (Rel. 1, Created)
Date 08-Jan-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9536093
RefAuthors Fondaneche, M. C., Villard, J., Wiszniewski, W., Jouanguy,
RefAuthors E., Etzioni, A., Le Deist, F., Peijnenburg, A., Casanova,
RefAuthors J. L., Reith, W., Mach, B., Fischer, A., Lisowska-
RefAuthors Grospierre, B.
RefTitle Genetic and molecular definition of complementation group
RefTitle D in MHC class II deficiency.
RefLoc Hum Mol Genet 7:879-885 (1998)
RefNumber [2]
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)
RefNumber [3]
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)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0075: 52510
Feature /change: +gcggggc
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0075: 151
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00287; RFXAP_HUMAN: 12
Feature /change: P
Feature /change: -> RGAGRRQRRA PPRGPSPGCG SHLGASLGGG RGLSIHPASD
Feature /change: ATLCWAGRGC GPRGQRWGGQ ARX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0075: 52510
Feature /change: +gcggggc
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0075: 151
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00287; RFXAP_HUMAN: 12
Feature /change: P
Feature /change: -> RGAGRRQRRA PPRGPSPGCG SHLGASLGGG RGLSIHPASD
Feature /change: ATLCWAGRGC GPRGQRWGGQ ARX
Ethnic origin Druze
Parents Consanguineous
Relative RFXAPbase; R0007 cousin
//
ID @P12X74(1b),@P12X74(1b); standard; MUTATION;
Accession R0007; @G11X73
Systematic name Allele 1 and 2: g.52509_52510insGCGGGGC,
Systematic name c.150_151insGCGGGGC, p.P12fsX74
Original code ShG
Description Allele 1 and 2: insertion in the exon 1 leading to a
Description premature stop codon
Date 08-Jan-2003 (Rel. 1, Created)
Date 08-Jan-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9536093
RefAuthors Fondaneche, M. C., Villard, J., Wiszniewski, W., Jouanguy,
RefAuthors E., Etzioni, A., Le Deist, F., Peijnenburg, A., Casanova,
RefAuthors J. L., Reith, W., Mach, B., Fischer, A., Lisowska-
RefAuthors Grospierre, B.
RefTitle Genetic and molecular definition of complementation group
RefTitle D in MHC class II deficiency.
RefLoc Hum Mol Genet 7:879-885 (1998)
RefNumber [2]
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)
RefNumber [3]
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)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0075: 52510
Feature /change: +gcggggc
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0075: 151
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00287; RFXAP_HUMAN: 12
Feature /change: P
Feature /change: -> RGAGRRQRRA PPRGPSPGCG SHLGASLGGG RGLSIHPASD
Feature /change: ATLCWAGRGC GPRGQRWGGQ ARX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0075: 52510
Feature /change: +gcggggc
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0075: 151
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00287; RFXAP_HUMAN: 12
Feature /change: P
Feature /change: -> RGAGRRQRRA PPRGPSPGCG SHLGASLGGG RGLSIHPASD
Feature /change: ATLCWAGRGC GPRGQRWGGQ ARX
Ethnic origin Druze
Parents Consanguineous
Relative RFXAPbase; R0006 cousin
//
ID Q55X(1),Q55X(1); standard; MUTATION;
Accession R0002
Systematic name Allele 1 and 2: g.52638C>T, c.279C>T, p.Q55X
Original code ABI
Description Allele 1 and 2: point mutation in the exon 1 leading to a
Description premature stop codon
Date 08-Jan-2003 (Rel. 1, Created)
Date 08-Jan-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9287230
RefAuthors Villard, J., Lisowska-Grospierre, B., van den Elsen, P.,
RefAuthors Fischer, A., Reith, W., Mach, B.
RefTitle Mutation of RFXAP, a regulator of MHC class II genes, in
RefTitle primary MHC class II deficiency.
RefLoc N Engl J Med 337:748-753 (1997)
RefNumber [2]
RefCrossRef PUBMED; 9536093
RefAuthors Fondaneche, M. C., Villard, J., Wiszniewski, W., Jouanguy,
RefAuthors E., Etzioni, A., Le Deist, F., Peijnenburg, A., Casanova,
RefAuthors J. L., Reith, W., Mach, B., Fischer, A., Lisowska-
RefAuthors Grospierre, B.
RefTitle Genetic and molecular definition of complementation group
RefTitle D in MHC class II deficiency.
RefLoc Hum Mol Genet 7:879-885 (1998)
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)
RefNumber [4]
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)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0075: 52638
Feature /change: c -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0075: 279
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00287; RFXAP_HUMAN: 55
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0075: 52638
Feature /change: c -> t
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0075: 279
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00287; RFXAP_HUMAN: 55
Feature /change: Q -> X
Ethnic origin Turkey
//
ID Q55X(2),Q55X(2); standard; MUTATION;
Accession R0005
Systematic name Allele 1 and 2: g.52638C>T, c.279C>T, p.Q55X
Original code AkO
Description Allele 1 and 2: point mutation in the exon 1 leading to a
Description premature stop codon
Date 08-Jan-2003 (Rel. 1, Created)
Date 08-Jan-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9536093
RefAuthors Fondaneche, M. C., Villard, J., Wiszniewski, W., Jouanguy,
RefAuthors E., Etzioni, A., Le Deist, F., Peijnenburg, A., Casanova,
RefAuthors J. L., Reith, W., Mach, B., Fischer, A., Lisowska-
RefAuthors Grospierre, B.
RefTitle Genetic and molecular definition of complementation group
RefTitle D in MHC class II deficiency.
RefLoc Hum Mol Genet 7:879-885 (1998)
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)
RefNumber [4]
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)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0075: 52638
Feature /change: c -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0075: 279
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00287; RFXAP_HUMAN: 55
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0075: 52638
Feature /change: c -> t
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0075: 279
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00287; RFXAP_HUMAN: 55
Feature /change: Q -> X
Ethnic origin Turkey
Relative Description of pedigree:Parents are heterozygous
//
ID #S123X137(1),#S123X137(1); standard; MUTATION;
Accession R0001
Systematic name Allele 1 and 2: g.52843delG, c.484delG, p.S123fsX137
Original code DA; #G122X137
Description Allele 1 and 2: deletion in the exon 1 leading to a
Description premature stop codon
Date 08-Jan-2003 (Rel. 1, Created)
Date 08-Jan-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9118943
RefAuthors Durand, B., Sperisen, P., Emery, P., Barras, E., Zufferey,
RefAuthors M., Mach, B., Reith, W.
RefTitle RFXAP, a novel subunit of the RFX DNA binding complex is
RefTitle mutated in MHC class II deficiency.
RefLoc EMBO J 16:1045-1055 (1997)
RefNumber [2]
RefCrossRef PUBMED; 9287230
RefAuthors Villard, J., Lisowska-Grospierre, B., van den Elsen, P.,
RefAuthors Fischer, A., Reith, W., Mach, B.
RefTitle Mutation of RFXAP, a regulator of MHC class II genes, in
RefTitle primary MHC class II deficiency.
RefLoc N Engl J Med 337:748-753 (1997)
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)
RefNumber [4]
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)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0075: 52843
Feature /change: -g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0075: 484
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00287; RFXAP_HUMAN: 123
Feature /change: S -> TAGAPGGGAA VGAAX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0075: 52843
Feature /change: -g
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0075: 484
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00287; RFXAP_HUMAN: 123
Feature /change: S -> TAGAPGGGAA VGAAX
Ethnic origin Morocco
Parents Consanguineous
//
ID #S123X137(2),#S123X137(2); standard; MUTATION;
Accession R0003
Systematic name Allele 1 and 2: g.52843delG, c.484delG, p.S123fsX137
Original code ZM; #G122X137
Description Allele 1 and 2: deletion in the exon 1 leading to a
Description premature stop codon
Date 08-Jan-2003 (Rel. 1, Created)
Date 08-Jan-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9287230
RefAuthors Villard, J., Lisowska-Grospierre, B., van den Elsen, P.,
RefAuthors Fischer, A., Reith, W., Mach, B.
RefTitle Mutation of RFXAP, a regulator of MHC class II genes, in
RefTitle primary MHC class II deficiency.
RefLoc N Engl J Med 337:748-753 (1997)
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)
RefNumber [4]
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)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0075: 52843
Feature /change: -g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0075: 484
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00287; RFXAP_HUMAN: 123
Feature /change: S -> TAGAPGGGAA VGAAX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0075: 52843
Feature /change: -g
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0075: 484
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00287; RFXAP_HUMAN: 123
Feature /change: S -> TAGAPGGGAA VGAAX
Ethnic origin Algeria
//
ID #S123X137(3),#S123X137(3); standard; MUTATION;
Accession R0004
Systematic name Allele 1 and 2: g.52843delG, c.484delG, p.S123fsX137
Original code SS; #G122X137
Description Allele 1 and 2: deletion in the exon 1 leading to a
Description premature stop codon
Date 08-Jan-2003 (Rel. 1, Created)
Date 08-Jan-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9536093
RefAuthors Fondaneche, M. C., Villard, J., Wiszniewski, W., Jouanguy,
RefAuthors E., Etzioni, A., Le Deist, F., Peijnenburg, A., Casanova,
RefAuthors J. L., Reith, W., Mach, B., Fischer, A., Lisowska-
RefAuthors Grospierre, B.
RefTitle Genetic and molecular definition of complementation group
RefTitle D in MHC class II deficiency.
RefLoc Hum Mol Genet 7:879-885 (1998)
RefNumber [2]
RefCrossRef PUBMED; 7951244
RefAuthors Lisowska-Grospierre, B., Fondaneche, M. C., Rols, M. P.,
RefAuthors Griscelli, C., Fischer, A.
RefTitle Two complementation groups account for most cases of
RefTitle inherited MHC class II deficiency.
RefLoc Hum Mol Genet 3:953-958 (1994)
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)
RefNumber [4]
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)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0075: 52843
Feature /change: -g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0075: 484
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00287; RFXAP_HUMAN: 123
Feature /change: S -> TAGAPGGGAA VGAAX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0075: 52843
Feature /change: -g
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0075: 484
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O00287; RFXAP_HUMAN: 123
Feature /change: S -> TAGAPGGGAA VGAAX
Ethnic origin North Africa
//
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