Database ICOSbase
Version 1.0
File icospub.txt
Date 16-Jun-2011
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/ICOSbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF116.html
Gene ICOS
Disease ICOS deficiency
OMIM 604558
GDB 10450295
Sequence IDRefSeq:D0039; IDRefSeq:C0039; UniProt: Q9Y6W8
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID #F95X121(1),#F95X121(1); standard; MUTATION;
Accession I0010
Systematic name Allele 1 and 2: g.172403delT, c.285delT, r.285delu,
Systematic name p.Leu96fsX26
Original code Patient.1
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon
Date 17-Jun-2010 (Rel. 1, Created)
Date 17-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19380800
RefAuthors Takahashi, N., Matsumoto, K., Saito, H., Nanki, T.,
RefAuthors Miyasaka, N., Kobata, T., Azuma, M., Lee, S. K., Mizutani,
RefAuthors S., Morio, T.
RefTitle Impaired CD4 and CD8 effector function and decreased
RefTitle memory T cell populations in ICOS-deficient patients.
RefLoc J Immunol:5515-5527 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0039: 172403
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0039; GI:9968295; ICOSC: 352
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q9Y6W8; ICOS_HUMAN: 95
Feature /change: F -> FYTTWTILMP TITSATYQFL ILLLLKX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0039: 172403
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0039; GI:9968295; ICOSC: 352
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q9Y6W8; ICOS_HUMAN: 95
Feature /change: F -> FYTTWTILMP TITSATYQFL ILLLLKX
Symptoms Osteo-articular Infections
Symptoms Arthritis
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Unknown etiology
Symptoms Other clinical features: psoriasis like cutaneous lesions
Sex XX
Protein ICOS mutation
Relative elder sister and mother have heterozygous mutation del285t
Relative ICOSbase; I0011 brother
Relative Other affected family members: Yes
IgA 46 mg/dl, compare with normal for age: low
IgE <5 IU/L, compare with normal for age: low
IgG 315 mg/dl, compare with normal for age: low
IgM 56 mg/dl, compare with normal for age: normal
Lymphocytes Lymphocytes
Lymphocytes at diagnosis:
Lymphocytes total lymphocytes: 1,400 ± 200/mm3
Lymphocytes total CD4: 59.5 ± 5.0/mm3
Lymphocytes total CD8: 24.1 ± 4.0/mm3
Treatment IVIG: constant
Treatment Still on IVIG
//
ID #F95X121(2),#F95X121(2); standard; MUTATION;
Accession I0011
Systematic name Allele 1 and 2: g.172403delT, c.285delT, r.285delu,
Systematic name p.Leu96fsX26
Original code Patient.2
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon
Date 17-Jun-2010 (Rel. 1, Created)
Date 17-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19380800
RefAuthors Takahashi, N., Matsumoto, K., Saito, H., Nanki, T.,
RefAuthors Miyasaka, N., Kobata, T., Azuma, M., Lee, S. K., Mizutani,
RefAuthors S., Morio, T.
RefTitle Impaired CD4 and CD8 effector function and decreased
RefTitle memory T cell populations in ICOS-deficient patients.
RefLoc J Immunol:5515-5527 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0039: 172403
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0039; GI:9968295; ICOSC: 352
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q9Y6W8; ICOS_HUMAN: 95
Feature /change: F -> FYTTWTILMP TITSATYQFL ILLLLKX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0039: 172403
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0039; GI:9968295; ICOSC: 352
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q9Y6W8; ICOS_HUMAN: 95
Feature /change: F -> FYTTWTILMP TITSATYQFL ILLLLKX
Symptoms Other clinical features: psoriasis like cutaneous lesions
Sex XY
Protein ICOS mutation
Relative elder sister and mother have heterozygous mutation del285t
Relative ICOSbase; I0010 sister
Relative Other affected family members: Yes
IgA 103 mg/dl, compare with normal for age: normal
IgE <5 IU/L, compare with normal for age: low
IgG 611 mg/dl, compare with normal for age: low
IgM 456 mg/dl, compare with normal for age: high
Lymphocytes Lymphocytes
Lymphocytes at diagnosis:
Lymphocytes total lymphocytes: 1,900 ± 200/mm3
Lymphocytes total CD4: 55.6 ± 3.0/mm3
Lymphocytes total CD8: 19.1 ± 3.0/mm3
//
ID Deletion(1a),Deletion(1a); standard; MUTATION;
Accession I0001
Systematic name Allele 1 and 2: g.171583..173397del
Original code Patient 1
Description Allele 1 and 2: deletion in the part of intron 1, exon 2,
Description intron 2, exon 3 and part of intron 3 leading to aberrant
Description splicing
Date 23-Apr-2003 (Rel. 1, Created)
Date 23-Apr-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12577056
RefAuthors Grimbacher, B., Hutloff, A., Schlesier, M., Glocker, E.,
RefAuthors Warnatz, K., Drager, R., Eibel, H., Fischer, B., Schaffer,
RefAuthors A. A., Mages, H. W., Kroczek, R. A., Peter, H. H.
RefTitle Homozygous loss of ICOS is associated with adult-onset
RefTitle common variable immunodeficiency.
RefLoc Nat Immunol 4:261-268 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0039: 171583..173397
Feature /change: -gtttgatcaa caggtagaca attccttctc cccaagatat
Feature /change: acctactaat aaatgaagtt tttcctaaac ttcaactttt
Feature /change: cccatatctc tctgtttagc taagtgctac taatccttta
Feature /change: attccaattt taaaactcac ttcctcaagg cggcattttc
Feature /change: tgattctata atcaaaatta taacccacct gactctacca
Feature /change: ccttcattta aatagtactc cattcctatc acaaattatg
Feature /change: ttgcattact acatatttat tcctttacca tctgcctcca
Feature /change: atatgaaagc taccaaagga cagaggccat accagtttga
Feature /change: ttcatacaca ctatgtaaat atattattta atatttagta
Feature /change: tattctatat tcacatatga caagcaagtt tctggttagg
Feature /change: attttttttt ctctaggaca tagttttatc ttatgttctt
Feature /change: ccttgagggg tggagggaga atgtgaagct gtttcatttt
Feature /change: ggtgcaacag agatgacttt atgcattgaa taaattgctt
Feature /change: ttatgttaaa atataattat tagggcaaca ttataaaatg
Feature /change: tcacttttgc tttgttttct ttctttttat gcaggagaaa
Feature /change: tcaatggttc tgccaattat gagatgttta tatttcacaa
Feature /change: cggaggtgta caaattttat gcaaatatcc tgacattgtc
Feature /change: cagcaattta aaatgcagtt gctgaaaggg gggcaaatac
Feature /change: tctgcgatct cactaagaca aaaggaagtg gaaacacagt
Feature /change: gtccattaag agtctgaaat tctgccattc tcagttatcc
Feature /change: aacaacagtg tctctttttt tctatacaac ttggaccatt
Feature /change: ctcatgccaa ctattacttc tgcaacctat caatttttga
Feature /change: tcctcctcct tttaaagtaa ctcttacagg aggatatttg
Feature /change: catatttatg gtaagacatt gctttcatct tccaaactta
Feature /change: agagtatata tatgttttga caacttttct cactaataaa
Feature /change: atcaattaga caaataaata tcttttgtgt tggagttcac
Feature /change: ttagatgcag ttgatggtaa tcatttataa tgaagatata
Feature /change: caggtgatga tttactatta atcataatta gtattattca
Feature /change: gcaatatgca atgtaatccc atagactgct aagtcagaaa
Feature /change: tagatcatat tgccttttaa acacatatgc tattaaaaat
Feature /change: caggaaaaac attaagacaa atacttaaac ttatggctta
Feature /change: ataatgggta ttatctctat tcacctaaga tttaaggttt
Feature /change: ggttttgcac tgtgtttgtg gaatgaagta tgatgattga
Feature /change: aaatcatagt tttataacat tacttttact attacctctt
Feature /change: ttataaaaat ataggcagaa aagccctttc tattaaccac
Feature /change: atttgtaaat acattatatg cataatcttt taagttttag
Feature /change: ttcctggatc cttgccataa tactgagatg atgttagtct
Feature /change: aataacttgc ccacttactg gatttcatga ctataataaa
Feature /change: gaaaagcttc atttgataaa tagctctttt aaattggtaa
Feature /change: gagaacttgt ggttcagcag aatttttcat taacatacct
Feature /change: ttttttccaa tccagaatca caactttgtt gccagctgaa
Feature /change: gttctggtta cccataggat gtgcagcctt tgttgtagtc
Feature /change: tgcattttgg gatgcatact tatttgttgg cttacaaaaa
Feature /change: aggtaagcga tttctatctt tccttgtatc tgctttacag
Feature /change: atgcacatca gtgattattt cctcatcaaa agtacacatg
Feature /change: gctcttgtca gagta
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0039: 126..568
Feature /change: -gagaaatcaa tggttctgcc aattatgaga tgtttatatt
Feature /change: tcacaacgga ggtgtacaaa ttttatgcaa atatcctgac
Feature /change: attgtccagc aatttaaaat gcagttgctg aaaggggggc
Feature /change: aaatactctg cgatctcact aagacaaaag gaagtggaaa
Feature /change: cacagtgtcc attaagagtc tgaaattctg ccattctcag
Feature /change: ttatccaaca acagtgtctc tttttttcta tacaacttgg
Feature /change: accattctca tgccaactat tacttctgca acctatcaat
Feature /change: ttttgatcct cctcctttta aagtaactct tacaggagga
Feature /change: tatttgcata tttatgaatc acaactttgt tgccagctga
Feature /change: agttctggtt acccatagga tgtgcagcct ttgttgtagt
Feature /change: ctgcattttg ggatgcatac ttatttgttg gcttacaaaa
Feature /change: aag
Feature /note: skipping of exons 2 and 3
Feature /inexloc: -594
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6W8; ICOS_HUMAN: 20..167
Feature /change: GEINGSANYE MFIFHNGGVQ ILCKYPDIVQ QFKMQLLKGG
Feature /change: QILCDLTKTK GSGNTVSIKS LKFCHSQLSN NSVSFFLYNL
Feature /change: DHSHANYYFC NLSIFDPPPF KVTLTGGYLH IYESQLCCQL
Feature /change: KFWLPIGCAA FVVVCILGCI LICWLTKK
Feature /change: -> EVFIQCARPX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0039: 171583..173397
Feature /change: -gtttgatcaa caggtagaca attccttctc cccaagatat
Feature /change: acctactaat aaatgaagtt tttcctaaac ttcaactttt
Feature /change: cccatatctc tctgtttagc taagtgctac taatccttta
Feature /change: attccaattt taaaactcac ttcctcaagg cggcattttc
Feature /change: tgattctata atcaaaatta taacccacct gactctacca
Feature /change: ccttcattta aatagtactc cattcctatc acaaattatg
Feature /change: ttgcattact acatatttat tcctttacca tctgcctcca
Feature /change: atatgaaagc taccaaagga cagaggccat accagtttga
Feature /change: ttcatacaca ctatgtaaat atattattta atatttagta
Feature /change: tattctatat tcacatatga caagcaagtt tctggttagg
Feature /change: attttttttt ctctaggaca tagttttatc ttatgttctt
Feature /change: ccttgagggg tggagggaga atgtgaagct gtttcatttt
Feature /change: ggtgcaacag agatgacttt atgcattgaa taaattgctt
Feature /change: ttatgttaaa atataattat tagggcaaca ttataaaatg
Feature /change: tcacttttgc tttgttttct ttctttttat gcaggagaaa
Feature /change: tcaatggttc tgccaattat gagatgttta tatttcacaa
Feature /change: cggaggtgta caaattttat gcaaatatcc tgacattgtc
Feature /change: cagcaattta aaatgcagtt gctgaaaggg gggcaaatac
Feature /change: tctgcgatct cactaagaca aaaggaagtg gaaacacagt
Feature /change: gtccattaag agtctgaaat tctgccattc tcagttatcc
Feature /change: aacaacagtg tctctttttt tctatacaac ttggaccatt
Feature /change: ctcatgccaa ctattacttc tgcaacctat caatttttga
Feature /change: tcctcctcct tttaaagtaa ctcttacagg aggatatttg
Feature /change: catatttatg gtaagacatt gctttcatct tccaaactta
Feature /change: agagtatata tatgttttga caacttttct cactaataaa
Feature /change: atcaattaga caaataaata tcttttgtgt tggagttcac
Feature /change: ttagatgcag ttgatggtaa tcatttataa tgaagatata
Feature /change: caggtgatga tttactatta atcataatta gtattattca
Feature /change: gcaatatgca atgtaatccc atagactgct aagtcagaaa
Feature /change: tagatcatat tgccttttaa acacatatgc tattaaaaat
Feature /change: caggaaaaac attaagacaa atacttaaac ttatggctta
Feature /change: ataatgggta ttatctctat tcacctaaga tttaaggttt
Feature /change: ggttttgcac tgtgtttgtg gaatgaagta tgatgattga
Feature /change: aaatcatagt tttataacat tacttttact attacctctt
Feature /change: ttataaaaat ataggcagaa aagccctttc tattaaccac
Feature /change: atttgtaaat acattatatg cataatcttt taagttttag
Feature /change: ttcctggatc cttgccataa tactgagatg atgttagtct
Feature /change: aataacttgc ccacttactg gatttcatga ctataataaa
Feature /change: gaaaagcttc atttgataaa tagctctttt aaattggtaa
Feature /change: gagaacttgt ggttcagcag aatttttcat taacatacct
Feature /change: ttttttccaa tccagaatca caactttgtt gccagctgaa
Feature /change: gttctggtta cccataggat gtgcagcctt tgttgtagtc
Feature /change: tgcattttgg gatgcatact tatttgttgg cttacaaaaa
Feature /change: aggtaagcga tttctatctt tccttgtatc tgctttacag
Feature /change: atgcacatca gtgattattt cctcatcaaa agtacacatg
Feature /change: gctcttgtca gagta
Feature /genomic_region: intron; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0039: 126..568
Feature /change: -gagaaatcaa tggttctgcc aattatgaga tgtttatatt
Feature /change: tcacaacgga ggtgtacaaa ttttatgcaa atatcctgac
Feature /change: attgtccagc aatttaaaat gcagttgctg aaaggggggc
Feature /change: aaatactctg cgatctcact aagacaaaag gaagtggaaa
Feature /change: cacagtgtcc attaagagtc tgaaattctg ccattctcag
Feature /change: ttatccaaca acagtgtctc tttttttcta tacaacttgg
Feature /change: accattctca tgccaactat tacttctgca acctatcaat
Feature /change: ttttgatcct cctcctttta aagtaactct tacaggagga
Feature /change: tatttgcata tttatgaatc acaactttgt tgccagctga
Feature /change: agttctggtt acccatagga tgtgcagcct ttgttgtagt
Feature /change: ctgcattttg ggatgcatac ttatttgttg gcttacaaaa
Feature /change: aag
Feature /note: skipping of exons 2 and 3
Feature /inexloc: -594
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6W8; ICOS_HUMAN: 20..167
Feature /change: GEINGSANYE MFIFHNGGVQ ILCKYPDIVQ QFKMQLLKGG
Feature /change: QILCDLTKTK GSGNTVSIKS LKFCHSQLSN NSVSFFLYNL
Feature /change: DHSHANYYFC NLSIFDPPPF KVTLTGGYLH IYESQLCCQL
Feature /change: KFWLPIGCAA FVVVCILGCI LICWLTKK
Feature /change: -> EVFIQCARPX
Protein Defects of ICOS expression
Relative ICOSbase; I0002 sibling
Relative Other affected family members: Yes
Treatment IVIG: constant
IgA <0.3 mg/dl
IgG <1.9 mg/dl
IgM <0.2 mg/dl
//
ID Deletion(1b),Deletion(1b); standard; MUTATION;
Accession I0002
Systematic name Allele 1 and 2: g.171583..173397del
Original code Patient 2
Description Allele 1 and 2: deletion in the part of intron 1, exon 2,
Description intron 2, exon 3 and part of intron 3 leading to aberrant
Description splicing
Date 23-Apr-2003 (Rel. 1, Created)
Date 23-Apr-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12577056
RefAuthors Grimbacher, B., Hutloff, A., Schlesier, M., Glocker, E.,
RefAuthors Warnatz, K., Drager, R., Eibel, H., Fischer, B., Schaffer,
RefAuthors A. A., Mages, H. W., Kroczek, R. A., Peter, H. H.
RefTitle Homozygous loss of ICOS is associated with adult-onset
RefTitle common variable immunodeficiency.
RefLoc Nat Immunol 4:261-268 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0039: 171583..173397
Feature /change: -gtttgatcaa caggtagaca attccttctc cccaagatat
Feature /change: acctactaat aaatgaagtt tttcctaaac ttcaactttt
Feature /change: cccatatctc tctgtttagc taagtgctac taatccttta
Feature /change: attccaattt taaaactcac ttcctcaagg cggcattttc
Feature /change: tgattctata atcaaaatta taacccacct gactctacca
Feature /change: ccttcattta aatagtactc cattcctatc acaaattatg
Feature /change: ttgcattact acatatttat tcctttacca tctgcctcca
Feature /change: atatgaaagc taccaaagga cagaggccat accagtttga
Feature /change: ttcatacaca ctatgtaaat atattattta atatttagta
Feature /change: tattctatat tcacatatga caagcaagtt tctggttagg
Feature /change: attttttttt ctctaggaca tagttttatc ttatgttctt
Feature /change: ccttgagggg tggagggaga atgtgaagct gtttcatttt
Feature /change: ggtgcaacag agatgacttt atgcattgaa taaattgctt
Feature /change: ttatgttaaa atataattat tagggcaaca ttataaaatg
Feature /change: tcacttttgc tttgttttct ttctttttat gcaggagaaa
Feature /change: tcaatggttc tgccaattat gagatgttta tatttcacaa
Feature /change: cggaggtgta caaattttat gcaaatatcc tgacattgtc
Feature /change: cagcaattta aaatgcagtt gctgaaaggg gggcaaatac
Feature /change: tctgcgatct cactaagaca aaaggaagtg gaaacacagt
Feature /change: gtccattaag agtctgaaat tctgccattc tcagttatcc
Feature /change: aacaacagtg tctctttttt tctatacaac ttggaccatt
Feature /change: ctcatgccaa ctattacttc tgcaacctat caatttttga
Feature /change: tcctcctcct tttaaagtaa ctcttacagg aggatatttg
Feature /change: catatttatg gtaagacatt gctttcatct tccaaactta
Feature /change: agagtatata tatgttttga caacttttct cactaataaa
Feature /change: atcaattaga caaataaata tcttttgtgt tggagttcac
Feature /change: ttagatgcag ttgatggtaa tcatttataa tgaagatata
Feature /change: caggtgatga tttactatta atcataatta gtattattca
Feature /change: gcaatatgca atgtaatccc atagactgct aagtcagaaa
Feature /change: tagatcatat tgccttttaa acacatatgc tattaaaaat
Feature /change: caggaaaaac attaagacaa atacttaaac ttatggctta
Feature /change: ataatgggta ttatctctat tcacctaaga tttaaggttt
Feature /change: ggttttgcac tgtgtttgtg gaatgaagta tgatgattga
Feature /change: aaatcatagt tttataacat tacttttact attacctctt
Feature /change: ttataaaaat ataggcagaa aagccctttc tattaaccac
Feature /change: atttgtaaat acattatatg cataatcttt taagttttag
Feature /change: ttcctggatc cttgccataa tactgagatg atgttagtct
Feature /change: aataacttgc ccacttactg gatttcatga ctataataaa
Feature /change: gaaaagcttc atttgataaa tagctctttt aaattggtaa
Feature /change: gagaacttgt ggttcagcag aatttttcat taacatacct
Feature /change: ttttttccaa tccagaatca caactttgtt gccagctgaa
Feature /change: gttctggtta cccataggat gtgcagcctt tgttgtagtc
Feature /change: tgcattttgg gatgcatact tatttgttgg cttacaaaaa
Feature /change: aggtaagcga tttctatctt tccttgtatc tgctttacag
Feature /change: atgcacatca gtgattattt cctcatcaaa agtacacatg
Feature /change: gctcttgtca gagta
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0039: 126..568
Feature /change: -gagaaatcaa tggttctgcc aattatgaga tgtttatatt
Feature /change: tcacaacgga ggtgtacaaa ttttatgcaa atatcctgac
Feature /change: attgtccagc aatttaaaat gcagttgctg aaaggggggc
Feature /change: aaatactctg cgatctcact aagacaaaag gaagtggaaa
Feature /change: cacagtgtcc attaagagtc tgaaattctg ccattctcag
Feature /change: ttatccaaca acagtgtctc tttttttcta tacaacttgg
Feature /change: accattctca tgccaactat tacttctgca acctatcaat
Feature /change: ttttgatcct cctcctttta aagtaactct tacaggagga
Feature /change: tatttgcata tttatgaatc acaactttgt tgccagctga
Feature /change: agttctggtt acccatagga tgtgcagcct ttgttgtagt
Feature /change: ctgcattttg ggatgcatac ttatttgttg gcttacaaaa
Feature /change: aag
Feature /note: skipping of exons 2 and 3
Feature /inexloc: -594
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6W8; ICOS_HUMAN: 20..167
Feature /change: GEINGSANYE MFIFHNGGVQ ILCKYPDIVQ QFKMQLLKGG
Feature /change: QILCDLTKTK GSGNTVSIKS LKFCHSQLSN NSVSFFLYNL
Feature /change: DHSHANYYFC NLSIFDPPPF KVTLTGGYLH IYESQLCCQL
Feature /change: KFWLPIGCAA FVVVCILGCI LICWLTKK
Feature /change: -> EVFIQCARPX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0039: 171583..173397
Feature /change: -gtttgatcaa caggtagaca attccttctc cccaagatat
Feature /change: acctactaat aaatgaagtt tttcctaaac ttcaactttt
Feature /change: cccatatctc tctgtttagc taagtgctac taatccttta
Feature /change: attccaattt taaaactcac ttcctcaagg cggcattttc
Feature /change: tgattctata atcaaaatta taacccacct gactctacca
Feature /change: ccttcattta aatagtactc cattcctatc acaaattatg
Feature /change: ttgcattact acatatttat tcctttacca tctgcctcca
Feature /change: atatgaaagc taccaaagga cagaggccat accagtttga
Feature /change: ttcatacaca ctatgtaaat atattattta atatttagta
Feature /change: tattctatat tcacatatga caagcaagtt tctggttagg
Feature /change: attttttttt ctctaggaca tagttttatc ttatgttctt
Feature /change: ccttgagggg tggagggaga atgtgaagct gtttcatttt
Feature /change: ggtgcaacag agatgacttt atgcattgaa taaattgctt
Feature /change: ttatgttaaa atataattat tagggcaaca ttataaaatg
Feature /change: tcacttttgc tttgttttct ttctttttat gcaggagaaa
Feature /change: tcaatggttc tgccaattat gagatgttta tatttcacaa
Feature /change: cggaggtgta caaattttat gcaaatatcc tgacattgtc
Feature /change: cagcaattta aaatgcagtt gctgaaaggg gggcaaatac
Feature /change: tctgcgatct cactaagaca aaaggaagtg gaaacacagt
Feature /change: gtccattaag agtctgaaat tctgccattc tcagttatcc
Feature /change: aacaacagtg tctctttttt tctatacaac ttggaccatt
Feature /change: ctcatgccaa ctattacttc tgcaacctat caatttttga
Feature /change: tcctcctcct tttaaagtaa ctcttacagg aggatatttg
Feature /change: catatttatg gtaagacatt gctttcatct tccaaactta
Feature /change: agagtatata tatgttttga caacttttct cactaataaa
Feature /change: atcaattaga caaataaata tcttttgtgt tggagttcac
Feature /change: ttagatgcag ttgatggtaa tcatttataa tgaagatata
Feature /change: caggtgatga tttactatta atcataatta gtattattca
Feature /change: gcaatatgca atgtaatccc atagactgct aagtcagaaa
Feature /change: tagatcatat tgccttttaa acacatatgc tattaaaaat
Feature /change: caggaaaaac attaagacaa atacttaaac ttatggctta
Feature /change: ataatgggta ttatctctat tcacctaaga tttaaggttt
Feature /change: ggttttgcac tgtgtttgtg gaatgaagta tgatgattga
Feature /change: aaatcatagt tttataacat tacttttact attacctctt
Feature /change: ttataaaaat ataggcagaa aagccctttc tattaaccac
Feature /change: atttgtaaat acattatatg cataatcttt taagttttag
Feature /change: ttcctggatc cttgccataa tactgagatg atgttagtct
Feature /change: aataacttgc ccacttactg gatttcatga ctataataaa
Feature /change: gaaaagcttc atttgataaa tagctctttt aaattggtaa
Feature /change: gagaacttgt ggttcagcag aatttttcat taacatacct
Feature /change: ttttttccaa tccagaatca caactttgtt gccagctgaa
Feature /change: gttctggtta cccataggat gtgcagcctt tgttgtagtc
Feature /change: tgcattttgg gatgcatact tatttgttgg cttacaaaaa
Feature /change: aggtaagcga tttctatctt tccttgtatc tgctttacag
Feature /change: atgcacatca gtgattattt cctcatcaaa agtacacatg
Feature /change: gctcttgtca gagta
Feature /genomic_region: intron; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0039: 126..568
Feature /change: -gagaaatcaa tggttctgcc aattatgaga tgtttatatt
Feature /change: tcacaacgga ggtgtacaaa ttttatgcaa atatcctgac
Feature /change: attgtccagc aatttaaaat gcagttgctg aaaggggggc
Feature /change: aaatactctg cgatctcact aagacaaaag gaagtggaaa
Feature /change: cacagtgtcc attaagagtc tgaaattctg ccattctcag
Feature /change: ttatccaaca acagtgtctc tttttttcta tacaacttgg
Feature /change: accattctca tgccaactat tacttctgca acctatcaat
Feature /change: ttttgatcct cctcctttta aagtaactct tacaggagga
Feature /change: tatttgcata tttatgaatc acaactttgt tgccagctga
Feature /change: agttctggtt acccatagga tgtgcagcct ttgttgtagt
Feature /change: ctgcattttg ggatgcatac ttatttgttg gcttacaaaa
Feature /change: aag
Feature /note: skipping of exons 2 and 3
Feature /inexloc: -594
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6W8; ICOS_HUMAN: 20..167
Feature /change: GEINGSANYE MFIFHNGGVQ ILCKYPDIVQ QFKMQLLKGG
Feature /change: QILCDLTKTK GSGNTVSIKS LKFCHSQLSN NSVSFFLYNL
Feature /change: DHSHANYYFC NLSIFDPPPF KVTLTGGYLH IYESQLCCQL
Feature /change: KFWLPIGCAA FVVVCILGCI LICWLTKK
Feature /change: -> EVFIQCARPX
Protein Defects of ICOS expression
Relative ICOSbase; I0001 sibling
Relative Other affected family members: Yes
Treatment IVIG: constant
IgA 0.4 mg/dl
IgG 4.4 mg/dl
IgM <0.2 mg/dl
//
ID Deletion(2a),Deletion(2a); standard; MUTATION;
Accession I0003
Systematic name Allele 1 and 2: g.171583..173397del
Original code Patient 3
Description Allele 1 and 2: deletion in the part of intron 1, exon 2,
Description intron 2, exon 3 and part of intron 3 leading to aberrant
Description splicing
Date 23-Apr-2003 (Rel. 1, Created)
Date 23-Apr-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12577056
RefAuthors Grimbacher, B., Hutloff, A., Schlesier, M., Glocker, E.,
RefAuthors Warnatz, K., Drager, R., Eibel, H., Fischer, B., Schaffer,
RefAuthors A. A., Mages, H. W., Kroczek, R. A., Peter, H. H.
RefTitle Homozygous loss of ICOS is associated with adult-onset
RefTitle common variable immunodeficiency.
RefLoc Nat Immunol 4:261-268 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0039: 171583..173397
Feature /change: -gtttgatcaa caggtagaca attccttctc cccaagatat
Feature /change: acctactaat aaatgaagtt tttcctaaac ttcaactttt
Feature /change: cccatatctc tctgtttagc taagtgctac taatccttta
Feature /change: attccaattt taaaactcac ttcctcaagg cggcattttc
Feature /change: tgattctata atcaaaatta taacccacct gactctacca
Feature /change: ccttcattta aatagtactc cattcctatc acaaattatg
Feature /change: ttgcattact acatatttat tcctttacca tctgcctcca
Feature /change: atatgaaagc taccaaagga cagaggccat accagtttga
Feature /change: ttcatacaca ctatgtaaat atattattta atatttagta
Feature /change: tattctatat tcacatatga caagcaagtt tctggttagg
Feature /change: attttttttt ctctaggaca tagttttatc ttatgttctt
Feature /change: ccttgagggg tggagggaga atgtgaagct gtttcatttt
Feature /change: ggtgcaacag agatgacttt atgcattgaa taaattgctt
Feature /change: ttatgttaaa atataattat tagggcaaca ttataaaatg
Feature /change: tcacttttgc tttgttttct ttctttttat gcaggagaaa
Feature /change: tcaatggttc tgccaattat gagatgttta tatttcacaa
Feature /change: cggaggtgta caaattttat gcaaatatcc tgacattgtc
Feature /change: cagcaattta aaatgcagtt gctgaaaggg gggcaaatac
Feature /change: tctgcgatct cactaagaca aaaggaagtg gaaacacagt
Feature /change: gtccattaag agtctgaaat tctgccattc tcagttatcc
Feature /change: aacaacagtg tctctttttt tctatacaac ttggaccatt
Feature /change: ctcatgccaa ctattacttc tgcaacctat caatttttga
Feature /change: tcctcctcct tttaaagtaa ctcttacagg aggatatttg
Feature /change: catatttatg gtaagacatt gctttcatct tccaaactta
Feature /change: agagtatata tatgttttga caacttttct cactaataaa
Feature /change: atcaattaga caaataaata tcttttgtgt tggagttcac
Feature /change: ttagatgcag ttgatggtaa tcatttataa tgaagatata
Feature /change: caggtgatga tttactatta atcataatta gtattattca
Feature /change: gcaatatgca atgtaatccc atagactgct aagtcagaaa
Feature /change: tagatcatat tgccttttaa acacatatgc tattaaaaat
Feature /change: caggaaaaac attaagacaa atacttaaac ttatggctta
Feature /change: ataatgggta ttatctctat tcacctaaga tttaaggttt
Feature /change: ggttttgcac tgtgtttgtg gaatgaagta tgatgattga
Feature /change: aaatcatagt tttataacat tacttttact attacctctt
Feature /change: ttataaaaat ataggcagaa aagccctttc tattaaccac
Feature /change: atttgtaaat acattatatg cataatcttt taagttttag
Feature /change: ttcctggatc cttgccataa tactgagatg atgttagtct
Feature /change: aataacttgc ccacttactg gatttcatga ctataataaa
Feature /change: gaaaagcttc atttgataaa tagctctttt aaattggtaa
Feature /change: gagaacttgt ggttcagcag aatttttcat taacatacct
Feature /change: ttttttccaa tccagaatca caactttgtt gccagctgaa
Feature /change: gttctggtta cccataggat gtgcagcctt tgttgtagtc
Feature /change: tgcattttgg gatgcatact tatttgttgg cttacaaaaa
Feature /change: aggtaagcga tttctatctt tccttgtatc tgctttacag
Feature /change: atgcacatca gtgattattt cctcatcaaa agtacacatg
Feature /change: gctcttgtca gagta
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0039: 126..568
Feature /change: -gagaaatcaa tggttctgcc aattatgaga tgtttatatt
Feature /change: tcacaacgga ggtgtacaaa ttttatgcaa atatcctgac
Feature /change: attgtccagc aatttaaaat gcagttgctg aaaggggggc
Feature /change: aaatactctg cgatctcact aagacaaaag gaagtggaaa
Feature /change: cacagtgtcc attaagagtc tgaaattctg ccattctcag
Feature /change: ttatccaaca acagtgtctc tttttttcta tacaacttgg
Feature /change: accattctca tgccaactat tacttctgca acctatcaat
Feature /change: ttttgatcct cctcctttta aagtaactct tacaggagga
Feature /change: tatttgcata tttatgaatc acaactttgt tgccagctga
Feature /change: agttctggtt acccatagga tgtgcagcct ttgttgtagt
Feature /change: ctgcattttg ggatgcatac ttatttgttg gcttacaaaa
Feature /change: aag
Feature /note: skipping of exons 2 and 3
Feature /inexloc: -594
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6W8; ICOS_HUMAN: 20..167
Feature /change: GEINGSANYE MFIFHNGGVQ ILCKYPDIVQ QFKMQLLKGG
Feature /change: QILCDLTKTK GSGNTVSIKS LKFCHSQLSN NSVSFFLYNL
Feature /change: DHSHANYYFC NLSIFDPPPF KVTLTGGYLH IYESQLCCQL
Feature /change: KFWLPIGCAA FVVVCILGCI LICWLTKK
Feature /change: -> EVFIQCARPX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0039: 171583..173397
Feature /change: -gtttgatcaa caggtagaca attccttctc cccaagatat
Feature /change: acctactaat aaatgaagtt tttcctaaac ttcaactttt
Feature /change: cccatatctc tctgtttagc taagtgctac taatccttta
Feature /change: attccaattt taaaactcac ttcctcaagg cggcattttc
Feature /change: tgattctata atcaaaatta taacccacct gactctacca
Feature /change: ccttcattta aatagtactc cattcctatc acaaattatg
Feature /change: ttgcattact acatatttat tcctttacca tctgcctcca
Feature /change: atatgaaagc taccaaagga cagaggccat accagtttga
Feature /change: ttcatacaca ctatgtaaat atattattta atatttagta
Feature /change: tattctatat tcacatatga caagcaagtt tctggttagg
Feature /change: attttttttt ctctaggaca tagttttatc ttatgttctt
Feature /change: ccttgagggg tggagggaga atgtgaagct gtttcatttt
Feature /change: ggtgcaacag agatgacttt atgcattgaa taaattgctt
Feature /change: ttatgttaaa atataattat tagggcaaca ttataaaatg
Feature /change: tcacttttgc tttgttttct ttctttttat gcaggagaaa
Feature /change: tcaatggttc tgccaattat gagatgttta tatttcacaa
Feature /change: cggaggtgta caaattttat gcaaatatcc tgacattgtc
Feature /change: cagcaattta aaatgcagtt gctgaaaggg gggcaaatac
Feature /change: tctgcgatct cactaagaca aaaggaagtg gaaacacagt
Feature /change: gtccattaag agtctgaaat tctgccattc tcagttatcc
Feature /change: aacaacagtg tctctttttt tctatacaac ttggaccatt
Feature /change: ctcatgccaa ctattacttc tgcaacctat caatttttga
Feature /change: tcctcctcct tttaaagtaa ctcttacagg aggatatttg
Feature /change: catatttatg gtaagacatt gctttcatct tccaaactta
Feature /change: agagtatata tatgttttga caacttttct cactaataaa
Feature /change: atcaattaga caaataaata tcttttgtgt tggagttcac
Feature /change: ttagatgcag ttgatggtaa tcatttataa tgaagatata
Feature /change: caggtgatga tttactatta atcataatta gtattattca
Feature /change: gcaatatgca atgtaatccc atagactgct aagtcagaaa
Feature /change: tagatcatat tgccttttaa acacatatgc tattaaaaat
Feature /change: caggaaaaac attaagacaa atacttaaac ttatggctta
Feature /change: ataatgggta ttatctctat tcacctaaga tttaaggttt
Feature /change: ggttttgcac tgtgtttgtg gaatgaagta tgatgattga
Feature /change: aaatcatagt tttataacat tacttttact attacctctt
Feature /change: ttataaaaat ataggcagaa aagccctttc tattaaccac
Feature /change: atttgtaaat acattatatg cataatcttt taagttttag
Feature /change: ttcctggatc cttgccataa tactgagatg atgttagtct
Feature /change: aataacttgc ccacttactg gatttcatga ctataataaa
Feature /change: gaaaagcttc atttgataaa tagctctttt aaattggtaa
Feature /change: gagaacttgt ggttcagcag aatttttcat taacatacct
Feature /change: ttttttccaa tccagaatca caactttgtt gccagctgaa
Feature /change: gttctggtta cccataggat gtgcagcctt tgttgtagtc
Feature /change: tgcattttgg gatgcatact tatttgttgg cttacaaaaa
Feature /change: aggtaagcga tttctatctt tccttgtatc tgctttacag
Feature /change: atgcacatca gtgattattt cctcatcaaa agtacacatg
Feature /change: gctcttgtca gagta
Feature /genomic_region: intron; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0039: 126..568
Feature /change: -gagaaatcaa tggttctgcc aattatgaga tgtttatatt
Feature /change: tcacaacgga ggtgtacaaa ttttatgcaa atatcctgac
Feature /change: attgtccagc aatttaaaat gcagttgctg aaaggggggc
Feature /change: aaatactctg cgatctcact aagacaaaag gaagtggaaa
Feature /change: cacagtgtcc attaagagtc tgaaattctg ccattctcag
Feature /change: ttatccaaca acagtgtctc tttttttcta tacaacttgg
Feature /change: accattctca tgccaactat tacttctgca acctatcaat
Feature /change: ttttgatcct cctcctttta aagtaactct tacaggagga
Feature /change: tatttgcata tttatgaatc acaactttgt tgccagctga
Feature /change: agttctggtt acccatagga tgtgcagcct ttgttgtagt
Feature /change: ctgcattttg ggatgcatac ttatttgttg gcttacaaaa
Feature /change: aag
Feature /note: skipping of exons 2 and 3
Feature /inexloc: -594
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6W8; ICOS_HUMAN: 20..167
Feature /change: GEINGSANYE MFIFHNGGVQ ILCKYPDIVQ QFKMQLLKGG
Feature /change: QILCDLTKTK GSGNTVSIKS LKFCHSQLSN NSVSFFLYNL
Feature /change: DHSHANYYFC NLSIFDPPPF KVTLTGGYLH IYESQLCCQL
Feature /change: KFWLPIGCAA FVVVCILGCI LICWLTKK
Feature /change: -> EVFIQCARPX
Protein Defects of ICOS expression
Relative ICOSbase; I0004 sibling
Relative Other affected family members: Yes
Treatment IVIG: intermittent
IgA 0.3 mg/dl
IgG 1.7 mg/dl
IgM 0.2 mg/dl
//
ID Deletion(2b),Deletion(2b); standard; MUTATION;
Accession I0004
Systematic name Allele 1 and 2: g.171583..173397del
Original code Patient 4
Description Allele 1 and 2: deletion in the part of intron 1, exon 2,
Description intron 2, exon 3 and part of intron 3 leading to aberrant
Description splicing
Date 23-Apr-2003 (Rel. 1, Created)
Date 23-Apr-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12577056
RefAuthors Grimbacher, B., Hutloff, A., Schlesier, M., Glocker, E.,
RefAuthors Warnatz, K., Drager, R., Eibel, H., Fischer, B., Schaffer,
RefAuthors A. A., Mages, H. W., Kroczek, R. A., Peter, H. H.
RefTitle Homozygous loss of ICOS is associated with adult-onset
RefTitle common variable immunodeficiency.
RefLoc Nat Immunol 4:261-268 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0039: 171583..173397
Feature /change: -gtttgatcaa caggtagaca attccttctc cccaagatat
Feature /change: acctactaat aaatgaagtt tttcctaaac ttcaactttt
Feature /change: cccatatctc tctgtttagc taagtgctac taatccttta
Feature /change: attccaattt taaaactcac ttcctcaagg cggcattttc
Feature /change: tgattctata atcaaaatta taacccacct gactctacca
Feature /change: ccttcattta aatagtactc cattcctatc acaaattatg
Feature /change: ttgcattact acatatttat tcctttacca tctgcctcca
Feature /change: atatgaaagc taccaaagga cagaggccat accagtttga
Feature /change: ttcatacaca ctatgtaaat atattattta atatttagta
Feature /change: tattctatat tcacatatga caagcaagtt tctggttagg
Feature /change: attttttttt ctctaggaca tagttttatc ttatgttctt
Feature /change: ccttgagggg tggagggaga atgtgaagct gtttcatttt
Feature /change: ggtgcaacag agatgacttt atgcattgaa taaattgctt
Feature /change: ttatgttaaa atataattat tagggcaaca ttataaaatg
Feature /change: tcacttttgc tttgttttct ttctttttat gcaggagaaa
Feature /change: tcaatggttc tgccaattat gagatgttta tatttcacaa
Feature /change: cggaggtgta caaattttat gcaaatatcc tgacattgtc
Feature /change: cagcaattta aaatgcagtt gctgaaaggg gggcaaatac
Feature /change: tctgcgatct cactaagaca aaaggaagtg gaaacacagt
Feature /change: gtccattaag agtctgaaat tctgccattc tcagttatcc
Feature /change: aacaacagtg tctctttttt tctatacaac ttggaccatt
Feature /change: ctcatgccaa ctattacttc tgcaacctat caatttttga
Feature /change: tcctcctcct tttaaagtaa ctcttacagg aggatatttg
Feature /change: catatttatg gtaagacatt gctttcatct tccaaactta
Feature /change: agagtatata tatgttttga caacttttct cactaataaa
Feature /change: atcaattaga caaataaata tcttttgtgt tggagttcac
Feature /change: ttagatgcag ttgatggtaa tcatttataa tgaagatata
Feature /change: caggtgatga tttactatta atcataatta gtattattca
Feature /change: gcaatatgca atgtaatccc atagactgct aagtcagaaa
Feature /change: tagatcatat tgccttttaa acacatatgc tattaaaaat
Feature /change: caggaaaaac attaagacaa atacttaaac ttatggctta
Feature /change: ataatgggta ttatctctat tcacctaaga tttaaggttt
Feature /change: ggttttgcac tgtgtttgtg gaatgaagta tgatgattga
Feature /change: aaatcatagt tttataacat tacttttact attacctctt
Feature /change: ttataaaaat ataggcagaa aagccctttc tattaaccac
Feature /change: atttgtaaat acattatatg cataatcttt taagttttag
Feature /change: ttcctggatc cttgccataa tactgagatg atgttagtct
Feature /change: aataacttgc ccacttactg gatttcatga ctataataaa
Feature /change: gaaaagcttc atttgataaa tagctctttt aaattggtaa
Feature /change: gagaacttgt ggttcagcag aatttttcat taacatacct
Feature /change: ttttttccaa tccagaatca caactttgtt gccagctgaa
Feature /change: gttctggtta cccataggat gtgcagcctt tgttgtagtc
Feature /change: tgcattttgg gatgcatact tatttgttgg cttacaaaaa
Feature /change: aggtaagcga tttctatctt tccttgtatc tgctttacag
Feature /change: atgcacatca gtgattattt cctcatcaaa agtacacatg
Feature /change: gctcttgtca gagta
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0039: 126..568
Feature /change: -gagaaatcaa tggttctgcc aattatgaga tgtttatatt
Feature /change: tcacaacgga ggtgtacaaa ttttatgcaa atatcctgac
Feature /change: attgtccagc aatttaaaat gcagttgctg aaaggggggc
Feature /change: aaatactctg cgatctcact aagacaaaag gaagtggaaa
Feature /change: cacagtgtcc attaagagtc tgaaattctg ccattctcag
Feature /change: ttatccaaca acagtgtctc tttttttcta tacaacttgg
Feature /change: accattctca tgccaactat tacttctgca acctatcaat
Feature /change: ttttgatcct cctcctttta aagtaactct tacaggagga
Feature /change: tatttgcata tttatgaatc acaactttgt tgccagctga
Feature /change: agttctggtt acccatagga tgtgcagcct ttgttgtagt
Feature /change: ctgcattttg ggatgcatac ttatttgttg gcttacaaaa
Feature /change: aag
Feature /note: skipping of exons 2 and 3
Feature /inexloc: -594
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6W8; ICOS_HUMAN: 20..167
Feature /change: GEINGSANYE MFIFHNGGVQ ILCKYPDIVQ QFKMQLLKGG
Feature /change: QILCDLTKTK GSGNTVSIKS LKFCHSQLSN NSVSFFLYNL
Feature /change: DHSHANYYFC NLSIFDPPPF KVTLTGGYLH IYESQLCCQL
Feature /change: KFWLPIGCAA FVVVCILGCI LICWLTKK
Feature /change: -> EVFIQCARPX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0039: 171583..173397
Feature /change: -gtttgatcaa caggtagaca attccttctc cccaagatat
Feature /change: acctactaat aaatgaagtt tttcctaaac ttcaactttt
Feature /change: cccatatctc tctgtttagc taagtgctac taatccttta
Feature /change: attccaattt taaaactcac ttcctcaagg cggcattttc
Feature /change: tgattctata atcaaaatta taacccacct gactctacca
Feature /change: ccttcattta aatagtactc cattcctatc acaaattatg
Feature /change: ttgcattact acatatttat tcctttacca tctgcctcca
Feature /change: atatgaaagc taccaaagga cagaggccat accagtttga
Feature /change: ttcatacaca ctatgtaaat atattattta atatttagta
Feature /change: tattctatat tcacatatga caagcaagtt tctggttagg
Feature /change: attttttttt ctctaggaca tagttttatc ttatgttctt
Feature /change: ccttgagggg tggagggaga atgtgaagct gtttcatttt
Feature /change: ggtgcaacag agatgacttt atgcattgaa taaattgctt
Feature /change: ttatgttaaa atataattat tagggcaaca ttataaaatg
Feature /change: tcacttttgc tttgttttct ttctttttat gcaggagaaa
Feature /change: tcaatggttc tgccaattat gagatgttta tatttcacaa
Feature /change: cggaggtgta caaattttat gcaaatatcc tgacattgtc
Feature /change: cagcaattta aaatgcagtt gctgaaaggg gggcaaatac
Feature /change: tctgcgatct cactaagaca aaaggaagtg gaaacacagt
Feature /change: gtccattaag agtctgaaat tctgccattc tcagttatcc
Feature /change: aacaacagtg tctctttttt tctatacaac ttggaccatt
Feature /change: ctcatgccaa ctattacttc tgcaacctat caatttttga
Feature /change: tcctcctcct tttaaagtaa ctcttacagg aggatatttg
Feature /change: catatttatg gtaagacatt gctttcatct tccaaactta
Feature /change: agagtatata tatgttttga caacttttct cactaataaa
Feature /change: atcaattaga caaataaata tcttttgtgt tggagttcac
Feature /change: ttagatgcag ttgatggtaa tcatttataa tgaagatata
Feature /change: caggtgatga tttactatta atcataatta gtattattca
Feature /change: gcaatatgca atgtaatccc atagactgct aagtcagaaa
Feature /change: tagatcatat tgccttttaa acacatatgc tattaaaaat
Feature /change: caggaaaaac attaagacaa atacttaaac ttatggctta
Feature /change: ataatgggta ttatctctat tcacctaaga tttaaggttt
Feature /change: ggttttgcac tgtgtttgtg gaatgaagta tgatgattga
Feature /change: aaatcatagt tttataacat tacttttact attacctctt
Feature /change: ttataaaaat ataggcagaa aagccctttc tattaaccac
Feature /change: atttgtaaat acattatatg cataatcttt taagttttag
Feature /change: ttcctggatc cttgccataa tactgagatg atgttagtct
Feature /change: aataacttgc ccacttactg gatttcatga ctataataaa
Feature /change: gaaaagcttc atttgataaa tagctctttt aaattggtaa
Feature /change: gagaacttgt ggttcagcag aatttttcat taacatacct
Feature /change: ttttttccaa tccagaatca caactttgtt gccagctgaa
Feature /change: gttctggtta cccataggat gtgcagcctt tgttgtagtc
Feature /change: tgcattttgg gatgcatact tatttgttgg cttacaaaaa
Feature /change: aggtaagcga tttctatctt tccttgtatc tgctttacag
Feature /change: atgcacatca gtgattattt cctcatcaaa agtacacatg
Feature /change: gctcttgtca gagta
Feature /genomic_region: intron; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0039: 126..568
Feature /change: -gagaaatcaa tggttctgcc aattatgaga tgtttatatt
Feature /change: tcacaacgga ggtgtacaaa ttttatgcaa atatcctgac
Feature /change: attgtccagc aatttaaaat gcagttgctg aaaggggggc
Feature /change: aaatactctg cgatctcact aagacaaaag gaagtggaaa
Feature /change: cacagtgtcc attaagagtc tgaaattctg ccattctcag
Feature /change: ttatccaaca acagtgtctc tttttttcta tacaacttgg
Feature /change: accattctca tgccaactat tacttctgca acctatcaat
Feature /change: ttttgatcct cctcctttta aagtaactct tacaggagga
Feature /change: tatttgcata tttatgaatc acaactttgt tgccagctga
Feature /change: agttctggtt acccatagga tgtgcagcct ttgttgtagt
Feature /change: ctgcattttg ggatgcatac ttatttgttg gcttacaaaa
Feature /change: aag
Feature /note: skipping of exons 2 and 3
Feature /inexloc: -594
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6W8; ICOS_HUMAN: 20..167
Feature /change: GEINGSANYE MFIFHNGGVQ ILCKYPDIVQ QFKMQLLKGG
Feature /change: QILCDLTKTK GSGNTVSIKS LKFCHSQLSN NSVSFFLYNL
Feature /change: DHSHANYYFC NLSIFDPPPF KVTLTGGYLH IYESQLCCQL
Feature /change: KFWLPIGCAA FVVVCILGCI LICWLTKK
Feature /change: -> EVFIQCARPX
Protein Defects of ICOS expression
Relative ICOSbase; I0003 sibling
Relative Other affected family members: Yes
Treatment IVIG: intermittent
IgA 0.1 mg/dl
IgG 1.0 mg/dl
IgM 1.4 mg/dl
//
ID Deletion(3a),Deletion(3a); standard; MUTATION;
Accession I0005
Systematic name Allele 1 and 2: g.171583..173397del
Original code Family C, II.3
Description Allele 1 and 2: deletion in the part of intron 1, exon 2,
Description intron 2, exon 3 and part of intron 3 leading to aberrant
Description splicing
Date 23-Apr-2003 (Rel. 1, Created)
Date 23-Apr-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15507387
RefAuthors Salzer, U., Maul-Pavicic, A., Cunningham-Rundles, C.,
RefAuthors Urschel, S., Belohradsky, B. H., Litzman, J., Holm, A.,
RefAuthors Franco, J. L., Plebani, A., Hammarstrom, L., Skrabl, A.,
RefAuthors Schwinger, W., Grimbacher, B.
RefTitle ICOS deficiency in patients with common variable
RefTitle immunodeficiency.
RefLoc Clin Immunol 113:234-240 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0039: 171583..173397
Feature /change: -gtttgatcaa caggtagaca attccttctc cccaagatat
Feature /change: acctactaat aaatgaagtt tttcctaaac ttcaactttt
Feature /change: cccatatctc tctgtttagc taagtgctac taatccttta
Feature /change: attccaattt taaaactcac ttcctcaagg cggcattttc
Feature /change: tgattctata atcaaaatta taacccacct gactctacca
Feature /change: ccttcattta aatagtactc cattcctatc acaaattatg
Feature /change: ttgcattact acatatttat tcctttacca tctgcctcca
Feature /change: atatgaaagc taccaaagga cagaggccat accagtttga
Feature /change: ttcatacaca ctatgtaaat atattattta atatttagta
Feature /change: tattctatat tcacatatga caagcaagtt tctggttagg
Feature /change: attttttttt ctctaggaca tagttttatc ttatgttctt
Feature /change: ccttgagggg tggagggaga atgtgaagct gtttcatttt
Feature /change: ggtgcaacag agatgacttt atgcattgaa taaattgctt
Feature /change: ttatgttaaa atataattat tagggcaaca ttataaaatg
Feature /change: tcacttttgc tttgttttct ttctttttat gcaggagaaa
Feature /change: tcaatggttc tgccaattat gagatgttta tatttcacaa
Feature /change: cggaggtgta caaattttat gcaaatatcc tgacattgtc
Feature /change: cagcaattta aaatgcagtt gctgaaaggg gggcaaatac
Feature /change: tctgcgatct cactaagaca aaaggaagtg gaaacacagt
Feature /change: gtccattaag agtctgaaat tctgccattc tcagttatcc
Feature /change: aacaacagtg tctctttttt tctatacaac ttggaccatt
Feature /change: ctcatgccaa ctattacttc tgcaacctat caatttttga
Feature /change: tcctcctcct tttaaagtaa ctcttacagg aggatatttg
Feature /change: catatttatg gtaagacatt gctttcatct tccaaactta
Feature /change: agagtatata tatgttttga caacttttct cactaataaa
Feature /change: atcaattaga caaataaata tcttttgtgt tggagttcac
Feature /change: ttagatgcag ttgatggtaa tcatttataa tgaagatata
Feature /change: caggtgatga tttactatta atcataatta gtattattca
Feature /change: gcaatatgca atgtaatccc atagactgct aagtcagaaa
Feature /change: tagatcatat tgccttttaa acacatatgc tattaaaaat
Feature /change: caggaaaaac attaagacaa atacttaaac ttatggctta
Feature /change: ataatgggta ttatctctat tcacctaaga tttaaggttt
Feature /change: ggttttgcac tgtgtttgtg gaatgaagta tgatgattga
Feature /change: aaatcatagt tttataacat tacttttact attacctctt
Feature /change: ttataaaaat ataggcagaa aagccctttc tattaaccac
Feature /change: atttgtaaat acattatatg cataatcttt taagttttag
Feature /change: ttcctggatc cttgccataa tactgagatg atgttagtct
Feature /change: aataacttgc ccacttactg gatttcatga ctataataaa
Feature /change: gaaaagcttc atttgataaa tagctctttt aaattggtaa
Feature /change: gagaacttgt ggttcagcag aatttttcat taacatacct
Feature /change: ttttttccaa tccagaatca caactttgtt gccagctgaa
Feature /change: gttctggtta cccataggat gtgcagcctt tgttgtagtc
Feature /change: tgcattttgg gatgcatact tatttgttgg cttacaaaaa
Feature /change: aggtaagcga tttctatctt tccttgtatc tgctttacag
Feature /change: atgcacatca gtgattattt cctcatcaaa agtacacatg
Feature /change: gctcttgtca gagta
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0039: 126..568
Feature /change: -gagaaatcaa tggttctgcc aattatgaga tgtttatatt
Feature /change: tcacaacgga ggtgtacaaa ttttatgcaa atatcctgac
Feature /change: attgtccagc aatttaaaat gcagttgctg aaaggggggc
Feature /change: aaatactctg cgatctcact aagacaaaag gaagtggaaa
Feature /change: cacagtgtcc attaagagtc tgaaattctg ccattctcag
Feature /change: ttatccaaca acagtgtctc tttttttcta tacaacttgg
Feature /change: accattctca tgccaactat tacttctgca acctatcaat
Feature /change: ttttgatcct cctcctttta aagtaactct tacaggagga
Feature /change: tatttgcata tttatgaatc acaactttgt tgccagctga
Feature /change: agttctggtt acccatagga tgtgcagcct ttgttgtagt
Feature /change: ctgcattttg ggatgcatac ttatttgttg gcttacaaaa
Feature /change: aag
Feature /note: skipping of exons 2 and 3
Feature /inexloc: -594
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6W8; ICOS_HUMAN: 20..167
Feature /change: GEINGSANYE MFIFHNGGVQ ILCKYPDIVQ QFKMQLLKGG
Feature /change: QILCDLTKTK GSGNTVSIKS LKFCHSQLSN NSVSFFLYNL
Feature /change: DHSHANYYFC NLSIFDPPPF KVTLTGGYLH IYESQLCCQL
Feature /change: KFWLPIGCAA FVVVCILGCI LICWLTKK
Feature /change: -> EVFIQCARPX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0039: 171583..173397
Feature /change: -gtttgatcaa caggtagaca attccttctc cccaagatat
Feature /change: acctactaat aaatgaagtt tttcctaaac ttcaactttt
Feature /change: cccatatctc tctgtttagc taagtgctac taatccttta
Feature /change: attccaattt taaaactcac ttcctcaagg cggcattttc
Feature /change: tgattctata atcaaaatta taacccacct gactctacca
Feature /change: ccttcattta aatagtactc cattcctatc acaaattatg
Feature /change: ttgcattact acatatttat tcctttacca tctgcctcca
Feature /change: atatgaaagc taccaaagga cagaggccat accagtttga
Feature /change: ttcatacaca ctatgtaaat atattattta atatttagta
Feature /change: tattctatat tcacatatga caagcaagtt tctggttagg
Feature /change: attttttttt ctctaggaca tagttttatc ttatgttctt
Feature /change: ccttgagggg tggagggaga atgtgaagct gtttcatttt
Feature /change: ggtgcaacag agatgacttt atgcattgaa taaattgctt
Feature /change: ttatgttaaa atataattat tagggcaaca ttataaaatg
Feature /change: tcacttttgc tttgttttct ttctttttat gcaggagaaa
Feature /change: tcaatggttc tgccaattat gagatgttta tatttcacaa
Feature /change: cggaggtgta caaattttat gcaaatatcc tgacattgtc
Feature /change: cagcaattta aaatgcagtt gctgaaaggg gggcaaatac
Feature /change: tctgcgatct cactaagaca aaaggaagtg gaaacacagt
Feature /change: gtccattaag agtctgaaat tctgccattc tcagttatcc
Feature /change: aacaacagtg tctctttttt tctatacaac ttggaccatt
Feature /change: ctcatgccaa ctattacttc tgcaacctat caatttttga
Feature /change: tcctcctcct tttaaagtaa ctcttacagg aggatatttg
Feature /change: catatttatg gtaagacatt gctttcatct tccaaactta
Feature /change: agagtatata tatgttttga caacttttct cactaataaa
Feature /change: atcaattaga caaataaata tcttttgtgt tggagttcac
Feature /change: ttagatgcag ttgatggtaa tcatttataa tgaagatata
Feature /change: caggtgatga tttactatta atcataatta gtattattca
Feature /change: gcaatatgca atgtaatccc atagactgct aagtcagaaa
Feature /change: tagatcatat tgccttttaa acacatatgc tattaaaaat
Feature /change: caggaaaaac attaagacaa atacttaaac ttatggctta
Feature /change: ataatgggta ttatctctat tcacctaaga tttaaggttt
Feature /change: ggttttgcac tgtgtttgtg gaatgaagta tgatgattga
Feature /change: aaatcatagt tttataacat tacttttact attacctctt
Feature /change: ttataaaaat ataggcagaa aagccctttc tattaaccac
Feature /change: atttgtaaat acattatatg cataatcttt taagttttag
Feature /change: ttcctggatc cttgccataa tactgagatg atgttagtct
Feature /change: aataacttgc ccacttactg gatttcatga ctataataaa
Feature /change: gaaaagcttc atttgataaa tagctctttt aaattggtaa
Feature /change: gagaacttgt ggttcagcag aatttttcat taacatacct
Feature /change: ttttttccaa tccagaatca caactttgtt gccagctgaa
Feature /change: gttctggtta cccataggat gtgcagcctt tgttgtagtc
Feature /change: tgcattttgg gatgcatact tatttgttgg cttacaaaaa
Feature /change: aggtaagcga tttctatctt tccttgtatc tgctttacag
Feature /change: atgcacatca gtgattattt cctcatcaaa agtacacatg
Feature /change: gctcttgtca gagta
Feature /genomic_region: intron; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0039: 126..568
Feature /change: -gagaaatcaa tggttctgcc aattatgaga tgtttatatt
Feature /change: tcacaacgga ggtgtacaaa ttttatgcaa atatcctgac
Feature /change: attgtccagc aatttaaaat gcagttgctg aaaggggggc
Feature /change: aaatactctg cgatctcact aagacaaaag gaagtggaaa
Feature /change: cacagtgtcc attaagagtc tgaaattctg ccattctcag
Feature /change: ttatccaaca acagtgtctc tttttttcta tacaacttgg
Feature /change: accattctca tgccaactat tacttctgca acctatcaat
Feature /change: ttttgatcct cctcctttta aagtaactct tacaggagga
Feature /change: tatttgcata tttatgaatc acaactttgt tgccagctga
Feature /change: agttctggtt acccatagga tgtgcagcct ttgttgtagt
Feature /change: ctgcattttg ggatgcatac ttatttgttg gcttacaaaa
Feature /change: aag
Feature /note: skipping of exons 2 and 3
Feature /inexloc: -594
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6W8; ICOS_HUMAN: 20..167
Feature /change: GEINGSANYE MFIFHNGGVQ ILCKYPDIVQ QFKMQLLKGG
Feature /change: QILCDLTKTK GSGNTVSIKS LKFCHSQLSN NSVSFFLYNL
Feature /change: DHSHANYYFC NLSIFDPPPF KVTLTGGYLH IYESQLCCQL
Feature /change: KFWLPIGCAA FVVVCILGCI LICWLTKK
Feature /change: -> EVFIQCARPX
Protein Defects of ICOS expression
Sex XY
Relative ICOSbase; I0006 brother
Relative Other affected family members: Yes
IgA <0.06 mg/dl
IgG 1.01 mg/dl
IgM 0.38 mg/dl
//
ID Deletion(3b),Deletion(3b); standard; MUTATION;
Accession I0006
Systematic name Allele 1 and 2: g.171583..173397del
Original code Family C, II.4
Description Allele 1 and 2: deletion in the part of intron 1, exon 2,
Description intron 2, exon 3 and part of intron 3 leading to aberrant
Description splicing
Date 23-Apr-2003 (Rel. 1, Created)
Date 23-Apr-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15507387
RefAuthors Salzer, U., Maul-Pavicic, A., Cunningham-Rundles, C.,
RefAuthors Urschel, S., Belohradsky, B. H., Litzman, J., Holm, A.,
RefAuthors Franco, J. L., Plebani, A., Hammarstrom, L., Skrabl, A.,
RefAuthors Schwinger, W., Grimbacher, B.
RefTitle ICOS deficiency in patients with common variable
RefTitle immunodeficiency.
RefLoc Clin Immunol 113:234-240 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0039: 171583..173397
Feature /change: -gtttgatcaa caggtagaca attccttctc cccaagatat
Feature /change: acctactaat aaatgaagtt tttcctaaac ttcaactttt
Feature /change: cccatatctc tctgtttagc taagtgctac taatccttta
Feature /change: attccaattt taaaactcac ttcctcaagg cggcattttc
Feature /change: tgattctata atcaaaatta taacccacct gactctacca
Feature /change: ccttcattta aatagtactc cattcctatc acaaattatg
Feature /change: ttgcattact acatatttat tcctttacca tctgcctcca
Feature /change: atatgaaagc taccaaagga cagaggccat accagtttga
Feature /change: ttcatacaca ctatgtaaat atattattta atatttagta
Feature /change: tattctatat tcacatatga caagcaagtt tctggttagg
Feature /change: attttttttt ctctaggaca tagttttatc ttatgttctt
Feature /change: ccttgagggg tggagggaga atgtgaagct gtttcatttt
Feature /change: ggtgcaacag agatgacttt atgcattgaa taaattgctt
Feature /change: ttatgttaaa atataattat tagggcaaca ttataaaatg
Feature /change: tcacttttgc tttgttttct ttctttttat gcaggagaaa
Feature /change: tcaatggttc tgccaattat gagatgttta tatttcacaa
Feature /change: cggaggtgta caaattttat gcaaatatcc tgacattgtc
Feature /change: cagcaattta aaatgcagtt gctgaaaggg gggcaaatac
Feature /change: tctgcgatct cactaagaca aaaggaagtg gaaacacagt
Feature /change: gtccattaag agtctgaaat tctgccattc tcagttatcc
Feature /change: aacaacagtg tctctttttt tctatacaac ttggaccatt
Feature /change: ctcatgccaa ctattacttc tgcaacctat caatttttga
Feature /change: tcctcctcct tttaaagtaa ctcttacagg aggatatttg
Feature /change: catatttatg gtaagacatt gctttcatct tccaaactta
Feature /change: agagtatata tatgttttga caacttttct cactaataaa
Feature /change: atcaattaga caaataaata tcttttgtgt tggagttcac
Feature /change: ttagatgcag ttgatggtaa tcatttataa tgaagatata
Feature /change: caggtgatga tttactatta atcataatta gtattattca
Feature /change: gcaatatgca atgtaatccc atagactgct aagtcagaaa
Feature /change: tagatcatat tgccttttaa acacatatgc tattaaaaat
Feature /change: caggaaaaac attaagacaa atacttaaac ttatggctta
Feature /change: ataatgggta ttatctctat tcacctaaga tttaaggttt
Feature /change: ggttttgcac tgtgtttgtg gaatgaagta tgatgattga
Feature /change: aaatcatagt tttataacat tacttttact attacctctt
Feature /change: ttataaaaat ataggcagaa aagccctttc tattaaccac
Feature /change: atttgtaaat acattatatg cataatcttt taagttttag
Feature /change: ttcctggatc cttgccataa tactgagatg atgttagtct
Feature /change: aataacttgc ccacttactg gatttcatga ctataataaa
Feature /change: gaaaagcttc atttgataaa tagctctttt aaattggtaa
Feature /change: gagaacttgt ggttcagcag aatttttcat taacatacct
Feature /change: ttttttccaa tccagaatca caactttgtt gccagctgaa
Feature /change: gttctggtta cccataggat gtgcagcctt tgttgtagtc
Feature /change: tgcattttgg gatgcatact tatttgttgg cttacaaaaa
Feature /change: aggtaagcga tttctatctt tccttgtatc tgctttacag
Feature /change: atgcacatca gtgattattt cctcatcaaa agtacacatg
Feature /change: gctcttgtca gagta
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0039: 126..568
Feature /change: -gagaaatcaa tggttctgcc aattatgaga tgtttatatt
Feature /change: tcacaacgga ggtgtacaaa ttttatgcaa atatcctgac
Feature /change: attgtccagc aatttaaaat gcagttgctg aaaggggggc
Feature /change: aaatactctg cgatctcact aagacaaaag gaagtggaaa
Feature /change: cacagtgtcc attaagagtc tgaaattctg ccattctcag
Feature /change: ttatccaaca acagtgtctc tttttttcta tacaacttgg
Feature /change: accattctca tgccaactat tacttctgca acctatcaat
Feature /change: ttttgatcct cctcctttta aagtaactct tacaggagga
Feature /change: tatttgcata tttatgaatc acaactttgt tgccagctga
Feature /change: agttctggtt acccatagga tgtgcagcct ttgttgtagt
Feature /change: ctgcattttg ggatgcatac ttatttgttg gcttacaaaa
Feature /change: aag
Feature /note: skipping of exons 2 and 3
Feature /inexloc: -594
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6W8; ICOS_HUMAN: 20..167
Feature /change: GEINGSANYE MFIFHNGGVQ ILCKYPDIVQ QFKMQLLKGG
Feature /change: QILCDLTKTK GSGNTVSIKS LKFCHSQLSN NSVSFFLYNL
Feature /change: DHSHANYYFC NLSIFDPPPF KVTLTGGYLH IYESQLCCQL
Feature /change: KFWLPIGCAA FVVVCILGCI LICWLTKK
Feature /change: -> EVFIQCARPX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0039: 171583..173397
Feature /change: -gtttgatcaa caggtagaca attccttctc cccaagatat
Feature /change: acctactaat aaatgaagtt tttcctaaac ttcaactttt
Feature /change: cccatatctc tctgtttagc taagtgctac taatccttta
Feature /change: attccaattt taaaactcac ttcctcaagg cggcattttc
Feature /change: tgattctata atcaaaatta taacccacct gactctacca
Feature /change: ccttcattta aatagtactc cattcctatc acaaattatg
Feature /change: ttgcattact acatatttat tcctttacca tctgcctcca
Feature /change: atatgaaagc taccaaagga cagaggccat accagtttga
Feature /change: ttcatacaca ctatgtaaat atattattta atatttagta
Feature /change: tattctatat tcacatatga caagcaagtt tctggttagg
Feature /change: attttttttt ctctaggaca tagttttatc ttatgttctt
Feature /change: ccttgagggg tggagggaga atgtgaagct gtttcatttt
Feature /change: ggtgcaacag agatgacttt atgcattgaa taaattgctt
Feature /change: ttatgttaaa atataattat tagggcaaca ttataaaatg
Feature /change: tcacttttgc tttgttttct ttctttttat gcaggagaaa
Feature /change: tcaatggttc tgccaattat gagatgttta tatttcacaa
Feature /change: cggaggtgta caaattttat gcaaatatcc tgacattgtc
Feature /change: cagcaattta aaatgcagtt gctgaaaggg gggcaaatac
Feature /change: tctgcgatct cactaagaca aaaggaagtg gaaacacagt
Feature /change: gtccattaag agtctgaaat tctgccattc tcagttatcc
Feature /change: aacaacagtg tctctttttt tctatacaac ttggaccatt
Feature /change: ctcatgccaa ctattacttc tgcaacctat caatttttga
Feature /change: tcctcctcct tttaaagtaa ctcttacagg aggatatttg
Feature /change: catatttatg gtaagacatt gctttcatct tccaaactta
Feature /change: agagtatata tatgttttga caacttttct cactaataaa
Feature /change: atcaattaga caaataaata tcttttgtgt tggagttcac
Feature /change: ttagatgcag ttgatggtaa tcatttataa tgaagatata
Feature /change: caggtgatga tttactatta atcataatta gtattattca
Feature /change: gcaatatgca atgtaatccc atagactgct aagtcagaaa
Feature /change: tagatcatat tgccttttaa acacatatgc tattaaaaat
Feature /change: caggaaaaac attaagacaa atacttaaac ttatggctta
Feature /change: ataatgggta ttatctctat tcacctaaga tttaaggttt
Feature /change: ggttttgcac tgtgtttgtg gaatgaagta tgatgattga
Feature /change: aaatcatagt tttataacat tacttttact attacctctt
Feature /change: ttataaaaat ataggcagaa aagccctttc tattaaccac
Feature /change: atttgtaaat acattatatg cataatcttt taagttttag
Feature /change: ttcctggatc cttgccataa tactgagatg atgttagtct
Feature /change: aataacttgc ccacttactg gatttcatga ctataataaa
Feature /change: gaaaagcttc atttgataaa tagctctttt aaattggtaa
Feature /change: gagaacttgt ggttcagcag aatttttcat taacatacct
Feature /change: ttttttccaa tccagaatca caactttgtt gccagctgaa
Feature /change: gttctggtta cccataggat gtgcagcctt tgttgtagtc
Feature /change: tgcattttgg gatgcatact tatttgttgg cttacaaaaa
Feature /change: aggtaagcga tttctatctt tccttgtatc tgctttacag
Feature /change: atgcacatca gtgattattt cctcatcaaa agtacacatg
Feature /change: gctcttgtca gagta
Feature /genomic_region: intron; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0039: 126..568
Feature /change: -gagaaatcaa tggttctgcc aattatgaga tgtttatatt
Feature /change: tcacaacgga ggtgtacaaa ttttatgcaa atatcctgac
Feature /change: attgtccagc aatttaaaat gcagttgctg aaaggggggc
Feature /change: aaatactctg cgatctcact aagacaaaag gaagtggaaa
Feature /change: cacagtgtcc attaagagtc tgaaattctg ccattctcag
Feature /change: ttatccaaca acagtgtctc tttttttcta tacaacttgg
Feature /change: accattctca tgccaactat tacttctgca acctatcaat
Feature /change: ttttgatcct cctcctttta aagtaactct tacaggagga
Feature /change: tatttgcata tttatgaatc acaactttgt tgccagctga
Feature /change: agttctggtt acccatagga tgtgcagcct ttgttgtagt
Feature /change: ctgcattttg ggatgcatac ttatttgttg gcttacaaaa
Feature /change: aag
Feature /note: skipping of exons 2 and 3
Feature /inexloc: -594
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6W8; ICOS_HUMAN: 20..167
Feature /change: GEINGSANYE MFIFHNGGVQ ILCKYPDIVQ QFKMQLLKGG
Feature /change: QILCDLTKTK GSGNTVSIKS LKFCHSQLSN NSVSFFLYNL
Feature /change: DHSHANYYFC NLSIFDPPPF KVTLTGGYLH IYESQLCCQL
Feature /change: KFWLPIGCAA FVVVCILGCI LICWLTKK
Feature /change: -> EVFIQCARPX
Protein Defects of ICOS expression
Sex XY
Relative ICOSbase; I0005 brother
Relative Other affected family members: Yes
IgA <0.06 mg/dl
IgG 0.57 mg/dl
IgM 1.8 mg/dl
//
ID Deletion(4a),Deletion(4a); standard; MUTATION;
Accession I0007
Systematic name Allele 1 and 2: g.171583..173397del
Original code Family D, II.1
Description Allele 1 and 2: deletion in the part of intron 1, exon 2,
Description intron 2, exon 3 and part of intron 3 leading to aberrant
Description splicing
Date 23-Apr-2003 (Rel. 1, Created)
Date 23-Apr-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15507387
RefAuthors Salzer, U., Maul-Pavicic, A., Cunningham-Rundles, C.,
RefAuthors Urschel, S., Belohradsky, B. H., Litzman, J., Holm, A.,
RefAuthors Franco, J. L., Plebani, A., Hammarstrom, L., Skrabl, A.,
RefAuthors Schwinger, W., Grimbacher, B.
RefTitle ICOS deficiency in patients with common variable
RefTitle immunodeficiency.
RefLoc Clin Immunol 113:234-240 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0039: 171583..173397
Feature /change: -gtttgatcaa caggtagaca attccttctc cccaagatat
Feature /change: acctactaat aaatgaagtt tttcctaaac ttcaactttt
Feature /change: cccatatctc tctgtttagc taagtgctac taatccttta
Feature /change: attccaattt taaaactcac ttcctcaagg cggcattttc
Feature /change: tgattctata atcaaaatta taacccacct gactctacca
Feature /change: ccttcattta aatagtactc cattcctatc acaaattatg
Feature /change: ttgcattact acatatttat tcctttacca tctgcctcca
Feature /change: atatgaaagc taccaaagga cagaggccat accagtttga
Feature /change: ttcatacaca ctatgtaaat atattattta atatttagta
Feature /change: tattctatat tcacatatga caagcaagtt tctggttagg
Feature /change: attttttttt ctctaggaca tagttttatc ttatgttctt
Feature /change: ccttgagggg tggagggaga atgtgaagct gtttcatttt
Feature /change: ggtgcaacag agatgacttt atgcattgaa taaattgctt
Feature /change: ttatgttaaa atataattat tagggcaaca ttataaaatg
Feature /change: tcacttttgc tttgttttct ttctttttat gcaggagaaa
Feature /change: tcaatggttc tgccaattat gagatgttta tatttcacaa
Feature /change: cggaggtgta caaattttat gcaaatatcc tgacattgtc
Feature /change: cagcaattta aaatgcagtt gctgaaaggg gggcaaatac
Feature /change: tctgcgatct cactaagaca aaaggaagtg gaaacacagt
Feature /change: gtccattaag agtctgaaat tctgccattc tcagttatcc
Feature /change: aacaacagtg tctctttttt tctatacaac ttggaccatt
Feature /change: ctcatgccaa ctattacttc tgcaacctat caatttttga
Feature /change: tcctcctcct tttaaagtaa ctcttacagg aggatatttg
Feature /change: catatttatg gtaagacatt gctttcatct tccaaactta
Feature /change: agagtatata tatgttttga caacttttct cactaataaa
Feature /change: atcaattaga caaataaata tcttttgtgt tggagttcac
Feature /change: ttagatgcag ttgatggtaa tcatttataa tgaagatata
Feature /change: caggtgatga tttactatta atcataatta gtattattca
Feature /change: gcaatatgca atgtaatccc atagactgct aagtcagaaa
Feature /change: tagatcatat tgccttttaa acacatatgc tattaaaaat
Feature /change: caggaaaaac attaagacaa atacttaaac ttatggctta
Feature /change: ataatgggta ttatctctat tcacctaaga tttaaggttt
Feature /change: ggttttgcac tgtgtttgtg gaatgaagta tgatgattga
Feature /change: aaatcatagt tttataacat tacttttact attacctctt
Feature /change: ttataaaaat ataggcagaa aagccctttc tattaaccac
Feature /change: atttgtaaat acattatatg cataatcttt taagttttag
Feature /change: ttcctggatc cttgccataa tactgagatg atgttagtct
Feature /change: aataacttgc ccacttactg gatttcatga ctataataaa
Feature /change: gaaaagcttc atttgataaa tagctctttt aaattggtaa
Feature /change: gagaacttgt ggttcagcag aatttttcat taacatacct
Feature /change: ttttttccaa tccagaatca caactttgtt gccagctgaa
Feature /change: gttctggtta cccataggat gtgcagcctt tgttgtagtc
Feature /change: tgcattttgg gatgcatact tatttgttgg cttacaaaaa
Feature /change: aggtaagcga tttctatctt tccttgtatc tgctttacag
Feature /change: atgcacatca gtgattattt cctcatcaaa agtacacatg
Feature /change: gctcttgtca gagta
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0039: 126..568
Feature /change: -gagaaatcaa tggttctgcc aattatgaga tgtttatatt
Feature /change: tcacaacgga ggtgtacaaa ttttatgcaa atatcctgac
Feature /change: attgtccagc aatttaaaat gcagttgctg aaaggggggc
Feature /change: aaatactctg cgatctcact aagacaaaag gaagtggaaa
Feature /change: cacagtgtcc attaagagtc tgaaattctg ccattctcag
Feature /change: ttatccaaca acagtgtctc tttttttcta tacaacttgg
Feature /change: accattctca tgccaactat tacttctgca acctatcaat
Feature /change: ttttgatcct cctcctttta aagtaactct tacaggagga
Feature /change: tatttgcata tttatgaatc acaactttgt tgccagctga
Feature /change: agttctggtt acccatagga tgtgcagcct ttgttgtagt
Feature /change: ctgcattttg ggatgcatac ttatttgttg gcttacaaaa
Feature /change: aag
Feature /note: skipping of exons 2 and 3
Feature /inexloc: -594
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6W8; ICOS_HUMAN: 20..167
Feature /change: GEINGSANYE MFIFHNGGVQ ILCKYPDIVQ QFKMQLLKGG
Feature /change: QILCDLTKTK GSGNTVSIKS LKFCHSQLSN NSVSFFLYNL
Feature /change: DHSHANYYFC NLSIFDPPPF KVTLTGGYLH IYESQLCCQL
Feature /change: KFWLPIGCAA FVVVCILGCI LICWLTKK
Feature /change: -> EVFIQCARPX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0039: 171583..173397
Feature /change: -gtttgatcaa caggtagaca attccttctc cccaagatat
Feature /change: acctactaat aaatgaagtt tttcctaaac ttcaactttt
Feature /change: cccatatctc tctgtttagc taagtgctac taatccttta
Feature /change: attccaattt taaaactcac ttcctcaagg cggcattttc
Feature /change: tgattctata atcaaaatta taacccacct gactctacca
Feature /change: ccttcattta aatagtactc cattcctatc acaaattatg
Feature /change: ttgcattact acatatttat tcctttacca tctgcctcca
Feature /change: atatgaaagc taccaaagga cagaggccat accagtttga
Feature /change: ttcatacaca ctatgtaaat atattattta atatttagta
Feature /change: tattctatat tcacatatga caagcaagtt tctggttagg
Feature /change: attttttttt ctctaggaca tagttttatc ttatgttctt
Feature /change: ccttgagggg tggagggaga atgtgaagct gtttcatttt
Feature /change: ggtgcaacag agatgacttt atgcattgaa taaattgctt
Feature /change: ttatgttaaa atataattat tagggcaaca ttataaaatg
Feature /change: tcacttttgc tttgttttct ttctttttat gcaggagaaa
Feature /change: tcaatggttc tgccaattat gagatgttta tatttcacaa
Feature /change: cggaggtgta caaattttat gcaaatatcc tgacattgtc
Feature /change: cagcaattta aaatgcagtt gctgaaaggg gggcaaatac
Feature /change: tctgcgatct cactaagaca aaaggaagtg gaaacacagt
Feature /change: gtccattaag agtctgaaat tctgccattc tcagttatcc
Feature /change: aacaacagtg tctctttttt tctatacaac ttggaccatt
Feature /change: ctcatgccaa ctattacttc tgcaacctat caatttttga
Feature /change: tcctcctcct tttaaagtaa ctcttacagg aggatatttg
Feature /change: catatttatg gtaagacatt gctttcatct tccaaactta
Feature /change: agagtatata tatgttttga caacttttct cactaataaa
Feature /change: atcaattaga caaataaata tcttttgtgt tggagttcac
Feature /change: ttagatgcag ttgatggtaa tcatttataa tgaagatata
Feature /change: caggtgatga tttactatta atcataatta gtattattca
Feature /change: gcaatatgca atgtaatccc atagactgct aagtcagaaa
Feature /change: tagatcatat tgccttttaa acacatatgc tattaaaaat
Feature /change: caggaaaaac attaagacaa atacttaaac ttatggctta
Feature /change: ataatgggta ttatctctat tcacctaaga tttaaggttt
Feature /change: ggttttgcac tgtgtttgtg gaatgaagta tgatgattga
Feature /change: aaatcatagt tttataacat tacttttact attacctctt
Feature /change: ttataaaaat ataggcagaa aagccctttc tattaaccac
Feature /change: atttgtaaat acattatatg cataatcttt taagttttag
Feature /change: ttcctggatc cttgccataa tactgagatg atgttagtct
Feature /change: aataacttgc ccacttactg gatttcatga ctataataaa
Feature /change: gaaaagcttc atttgataaa tagctctttt aaattggtaa
Feature /change: gagaacttgt ggttcagcag aatttttcat taacatacct
Feature /change: ttttttccaa tccagaatca caactttgtt gccagctgaa
Feature /change: gttctggtta cccataggat gtgcagcctt tgttgtagtc
Feature /change: tgcattttgg gatgcatact tatttgttgg cttacaaaaa
Feature /change: aggtaagcga tttctatctt tccttgtatc tgctttacag
Feature /change: atgcacatca gtgattattt cctcatcaaa agtacacatg
Feature /change: gctcttgtca gagta
Feature /genomic_region: intron; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0039: 126..568
Feature /change: -gagaaatcaa tggttctgcc aattatgaga tgtttatatt
Feature /change: tcacaacgga ggtgtacaaa ttttatgcaa atatcctgac
Feature /change: attgtccagc aatttaaaat gcagttgctg aaaggggggc
Feature /change: aaatactctg cgatctcact aagacaaaag gaagtggaaa
Feature /change: cacagtgtcc attaagagtc tgaaattctg ccattctcag
Feature /change: ttatccaaca acagtgtctc tttttttcta tacaacttgg
Feature /change: accattctca tgccaactat tacttctgca acctatcaat
Feature /change: ttttgatcct cctcctttta aagtaactct tacaggagga
Feature /change: tatttgcata tttatgaatc acaactttgt tgccagctga
Feature /change: agttctggtt acccatagga tgtgcagcct ttgttgtagt
Feature /change: ctgcattttg ggatgcatac ttatttgttg gcttacaaaa
Feature /change: aag
Feature /note: skipping of exons 2 and 3
Feature /inexloc: -594
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6W8; ICOS_HUMAN: 20..167
Feature /change: GEINGSANYE MFIFHNGGVQ ILCKYPDIVQ QFKMQLLKGG
Feature /change: QILCDLTKTK GSGNTVSIKS LKFCHSQLSN NSVSFFLYNL
Feature /change: DHSHANYYFC NLSIFDPPPF KVTLTGGYLH IYESQLCCQL
Feature /change: KFWLPIGCAA FVVVCILGCI LICWLTKK
Feature /change: -> EVFIQCARPX
Protein Defects of ICOS expression
Sex XX
Relative ICOSbase; I0008 sister
Relative ICOSbase; I0009 brother
Relative Other affected family members: Yes
IgA <0.25 mg/dl
IgG 2.55 mg/dl
IgM 0.26 mg/dl
//
ID Deletion(4b),Deletion(4b); standard; MUTATION;
Accession I0008
Systematic name Allele 1 and 2: g.171583..173397del
Original code Family D, II.3
Description Allele 1 and 2: deletion in the part of intron 1, exon 2,
Description intron 2, exon 3 and part of intron 3 leading to aberrant
Description splicing
Date 23-Apr-2003 (Rel. 1, Created)
Date 23-Apr-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15507387
RefAuthors Salzer, U., Maul-Pavicic, A., Cunningham-Rundles, C.,
RefAuthors Urschel, S., Belohradsky, B. H., Litzman, J., Holm, A.,
RefAuthors Franco, J. L., Plebani, A., Hammarstrom, L., Skrabl, A.,
RefAuthors Schwinger, W., Grimbacher, B.
RefTitle ICOS deficiency in patients with common variable
RefTitle immunodeficiency.
RefLoc Clin Immunol 113:234-240 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0039: 171583..173397
Feature /change: -gtttgatcaa caggtagaca attccttctc cccaagatat
Feature /change: acctactaat aaatgaagtt tttcctaaac ttcaactttt
Feature /change: cccatatctc tctgtttagc taagtgctac taatccttta
Feature /change: attccaattt taaaactcac ttcctcaagg cggcattttc
Feature /change: tgattctata atcaaaatta taacccacct gactctacca
Feature /change: ccttcattta aatagtactc cattcctatc acaaattatg
Feature /change: ttgcattact acatatttat tcctttacca tctgcctcca
Feature /change: atatgaaagc taccaaagga cagaggccat accagtttga
Feature /change: ttcatacaca ctatgtaaat atattattta atatttagta
Feature /change: tattctatat tcacatatga caagcaagtt tctggttagg
Feature /change: attttttttt ctctaggaca tagttttatc ttatgttctt
Feature /change: ccttgagggg tggagggaga atgtgaagct gtttcatttt
Feature /change: ggtgcaacag agatgacttt atgcattgaa taaattgctt
Feature /change: ttatgttaaa atataattat tagggcaaca ttataaaatg
Feature /change: tcacttttgc tttgttttct ttctttttat gcaggagaaa
Feature /change: tcaatggttc tgccaattat gagatgttta tatttcacaa
Feature /change: cggaggtgta caaattttat gcaaatatcc tgacattgtc
Feature /change: cagcaattta aaatgcagtt gctgaaaggg gggcaaatac
Feature /change: tctgcgatct cactaagaca aaaggaagtg gaaacacagt
Feature /change: gtccattaag agtctgaaat tctgccattc tcagttatcc
Feature /change: aacaacagtg tctctttttt tctatacaac ttggaccatt
Feature /change: ctcatgccaa ctattacttc tgcaacctat caatttttga
Feature /change: tcctcctcct tttaaagtaa ctcttacagg aggatatttg
Feature /change: catatttatg gtaagacatt gctttcatct tccaaactta
Feature /change: agagtatata tatgttttga caacttttct cactaataaa
Feature /change: atcaattaga caaataaata tcttttgtgt tggagttcac
Feature /change: ttagatgcag ttgatggtaa tcatttataa tgaagatata
Feature /change: caggtgatga tttactatta atcataatta gtattattca
Feature /change: gcaatatgca atgtaatccc atagactgct aagtcagaaa
Feature /change: tagatcatat tgccttttaa acacatatgc tattaaaaat
Feature /change: caggaaaaac attaagacaa atacttaaac ttatggctta
Feature /change: ataatgggta ttatctctat tcacctaaga tttaaggttt
Feature /change: ggttttgcac tgtgtttgtg gaatgaagta tgatgattga
Feature /change: aaatcatagt tttataacat tacttttact attacctctt
Feature /change: ttataaaaat ataggcagaa aagccctttc tattaaccac
Feature /change: atttgtaaat acattatatg cataatcttt taagttttag
Feature /change: ttcctggatc cttgccataa tactgagatg atgttagtct
Feature /change: aataacttgc ccacttactg gatttcatga ctataataaa
Feature /change: gaaaagcttc atttgataaa tagctctttt aaattggtaa
Feature /change: gagaacttgt ggttcagcag aatttttcat taacatacct
Feature /change: ttttttccaa tccagaatca caactttgtt gccagctgaa
Feature /change: gttctggtta cccataggat gtgcagcctt tgttgtagtc
Feature /change: tgcattttgg gatgcatact tatttgttgg cttacaaaaa
Feature /change: aggtaagcga tttctatctt tccttgtatc tgctttacag
Feature /change: atgcacatca gtgattattt cctcatcaaa agtacacatg
Feature /change: gctcttgtca gagta
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0039: 126..568
Feature /change: -gagaaatcaa tggttctgcc aattatgaga tgtttatatt
Feature /change: tcacaacgga ggtgtacaaa ttttatgcaa atatcctgac
Feature /change: attgtccagc aatttaaaat gcagttgctg aaaggggggc
Feature /change: aaatactctg cgatctcact aagacaaaag gaagtggaaa
Feature /change: cacagtgtcc attaagagtc tgaaattctg ccattctcag
Feature /change: ttatccaaca acagtgtctc tttttttcta tacaacttgg
Feature /change: accattctca tgccaactat tacttctgca acctatcaat
Feature /change: ttttgatcct cctcctttta aagtaactct tacaggagga
Feature /change: tatttgcata tttatgaatc acaactttgt tgccagctga
Feature /change: agttctggtt acccatagga tgtgcagcct ttgttgtagt
Feature /change: ctgcattttg ggatgcatac ttatttgttg gcttacaaaa
Feature /change: aag
Feature /note: skipping of exons 2 and 3
Feature /inexloc: -594
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6W8; ICOS_HUMAN: 20..167
Feature /change: GEINGSANYE MFIFHNGGVQ ILCKYPDIVQ QFKMQLLKGG
Feature /change: QILCDLTKTK GSGNTVSIKS LKFCHSQLSN NSVSFFLYNL
Feature /change: DHSHANYYFC NLSIFDPPPF KVTLTGGYLH IYESQLCCQL
Feature /change: KFWLPIGCAA FVVVCILGCI LICWLTKK
Feature /change: -> EVFIQCARPX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0039: 171583..173397
Feature /change: -gtttgatcaa caggtagaca attccttctc cccaagatat
Feature /change: acctactaat aaatgaagtt tttcctaaac ttcaactttt
Feature /change: cccatatctc tctgtttagc taagtgctac taatccttta
Feature /change: attccaattt taaaactcac ttcctcaagg cggcattttc
Feature /change: tgattctata atcaaaatta taacccacct gactctacca
Feature /change: ccttcattta aatagtactc cattcctatc acaaattatg
Feature /change: ttgcattact acatatttat tcctttacca tctgcctcca
Feature /change: atatgaaagc taccaaagga cagaggccat accagtttga
Feature /change: ttcatacaca ctatgtaaat atattattta atatttagta
Feature /change: tattctatat tcacatatga caagcaagtt tctggttagg
Feature /change: attttttttt ctctaggaca tagttttatc ttatgttctt
Feature /change: ccttgagggg tggagggaga atgtgaagct gtttcatttt
Feature /change: ggtgcaacag agatgacttt atgcattgaa taaattgctt
Feature /change: ttatgttaaa atataattat tagggcaaca ttataaaatg
Feature /change: tcacttttgc tttgttttct ttctttttat gcaggagaaa
Feature /change: tcaatggttc tgccaattat gagatgttta tatttcacaa
Feature /change: cggaggtgta caaattttat gcaaatatcc tgacattgtc
Feature /change: cagcaattta aaatgcagtt gctgaaaggg gggcaaatac
Feature /change: tctgcgatct cactaagaca aaaggaagtg gaaacacagt
Feature /change: gtccattaag agtctgaaat tctgccattc tcagttatcc
Feature /change: aacaacagtg tctctttttt tctatacaac ttggaccatt
Feature /change: ctcatgccaa ctattacttc tgcaacctat caatttttga
Feature /change: tcctcctcct tttaaagtaa ctcttacagg aggatatttg
Feature /change: catatttatg gtaagacatt gctttcatct tccaaactta
Feature /change: agagtatata tatgttttga caacttttct cactaataaa
Feature /change: atcaattaga caaataaata tcttttgtgt tggagttcac
Feature /change: ttagatgcag ttgatggtaa tcatttataa tgaagatata
Feature /change: caggtgatga tttactatta atcataatta gtattattca
Feature /change: gcaatatgca atgtaatccc atagactgct aagtcagaaa
Feature /change: tagatcatat tgccttttaa acacatatgc tattaaaaat
Feature /change: caggaaaaac attaagacaa atacttaaac ttatggctta
Feature /change: ataatgggta ttatctctat tcacctaaga tttaaggttt
Feature /change: ggttttgcac tgtgtttgtg gaatgaagta tgatgattga
Feature /change: aaatcatagt tttataacat tacttttact attacctctt
Feature /change: ttataaaaat ataggcagaa aagccctttc tattaaccac
Feature /change: atttgtaaat acattatatg cataatcttt taagttttag
Feature /change: ttcctggatc cttgccataa tactgagatg atgttagtct
Feature /change: aataacttgc ccacttactg gatttcatga ctataataaa
Feature /change: gaaaagcttc atttgataaa tagctctttt aaattggtaa
Feature /change: gagaacttgt ggttcagcag aatttttcat taacatacct
Feature /change: ttttttccaa tccagaatca caactttgtt gccagctgaa
Feature /change: gttctggtta cccataggat gtgcagcctt tgttgtagtc
Feature /change: tgcattttgg gatgcatact tatttgttgg cttacaaaaa
Feature /change: aggtaagcga tttctatctt tccttgtatc tgctttacag
Feature /change: atgcacatca gtgattattt cctcatcaaa agtacacatg
Feature /change: gctcttgtca gagta
Feature /genomic_region: intron; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0039: 126..568
Feature /change: -gagaaatcaa tggttctgcc aattatgaga tgtttatatt
Feature /change: tcacaacgga ggtgtacaaa ttttatgcaa atatcctgac
Feature /change: attgtccagc aatttaaaat gcagttgctg aaaggggggc
Feature /change: aaatactctg cgatctcact aagacaaaag gaagtggaaa
Feature /change: cacagtgtcc attaagagtc tgaaattctg ccattctcag
Feature /change: ttatccaaca acagtgtctc tttttttcta tacaacttgg
Feature /change: accattctca tgccaactat tacttctgca acctatcaat
Feature /change: ttttgatcct cctcctttta aagtaactct tacaggagga
Feature /change: tatttgcata tttatgaatc acaactttgt tgccagctga
Feature /change: agttctggtt acccatagga tgtgcagcct ttgttgtagt
Feature /change: ctgcattttg ggatgcatac ttatttgttg gcttacaaaa
Feature /change: aag
Feature /note: skipping of exons 2 and 3
Feature /inexloc: -594
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6W8; ICOS_HUMAN: 20..167
Feature /change: GEINGSANYE MFIFHNGGVQ ILCKYPDIVQ QFKMQLLKGG
Feature /change: QILCDLTKTK GSGNTVSIKS LKFCHSQLSN NSVSFFLYNL
Feature /change: DHSHANYYFC NLSIFDPPPF KVTLTGGYLH IYESQLCCQL
Feature /change: KFWLPIGCAA FVVVCILGCI LICWLTKK
Feature /change: -> EVFIQCARPX
Protein Defects of ICOS expression
Sex XX
Relative ICOSbase; I0007 sister
Relative ICOSbase; I0009 brother
Relative Other affected family members: Yes
IgA 0.58 mg/dl
IgG 2.13 mg/dl
IgM 0.57 mg/dl
//
ID Deletion(4c),Deletion(4c); standard; MUTATION;
Accession I0009
Systematic name Allele 1 and 2: g.171583..173397del
Original code Family D, II.4
Description Allele 1 and 2: deletion in the part of intron 1, exon 2,
Description intron 2, exon 3 and part of intron 3 leading to aberrant
Description splicing
Date 23-Apr-2003 (Rel. 1, Created)
Date 23-Apr-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15507387
RefAuthors Salzer, U., Maul-Pavicic, A., Cunningham-Rundles, C.,
RefAuthors Urschel, S., Belohradsky, B. H., Litzman, J., Holm, A.,
RefAuthors Franco, J. L., Plebani, A., Hammarstrom, L., Skrabl, A.,
RefAuthors Schwinger, W., Grimbacher, B.
RefTitle ICOS deficiency in patients with common variable
RefTitle immunodeficiency.
RefLoc Clin Immunol 113:234-240 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0039: 171583..173397
Feature /change: -gtttgatcaa caggtagaca attccttctc cccaagatat
Feature /change: acctactaat aaatgaagtt tttcctaaac ttcaactttt
Feature /change: cccatatctc tctgtttagc taagtgctac taatccttta
Feature /change: attccaattt taaaactcac ttcctcaagg cggcattttc
Feature /change: tgattctata atcaaaatta taacccacct gactctacca
Feature /change: ccttcattta aatagtactc cattcctatc acaaattatg
Feature /change: ttgcattact acatatttat tcctttacca tctgcctcca
Feature /change: atatgaaagc taccaaagga cagaggccat accagtttga
Feature /change: ttcatacaca ctatgtaaat atattattta atatttagta
Feature /change: tattctatat tcacatatga caagcaagtt tctggttagg
Feature /change: attttttttt ctctaggaca tagttttatc ttatgttctt
Feature /change: ccttgagggg tggagggaga atgtgaagct gtttcatttt
Feature /change: ggtgcaacag agatgacttt atgcattgaa taaattgctt
Feature /change: ttatgttaaa atataattat tagggcaaca ttataaaatg
Feature /change: tcacttttgc tttgttttct ttctttttat gcaggagaaa
Feature /change: tcaatggttc tgccaattat gagatgttta tatttcacaa
Feature /change: cggaggtgta caaattttat gcaaatatcc tgacattgtc
Feature /change: cagcaattta aaatgcagtt gctgaaaggg gggcaaatac
Feature /change: tctgcgatct cactaagaca aaaggaagtg gaaacacagt
Feature /change: gtccattaag agtctgaaat tctgccattc tcagttatcc
Feature /change: aacaacagtg tctctttttt tctatacaac ttggaccatt
Feature /change: ctcatgccaa ctattacttc tgcaacctat caatttttga
Feature /change: tcctcctcct tttaaagtaa ctcttacagg aggatatttg
Feature /change: catatttatg gtaagacatt gctttcatct tccaaactta
Feature /change: agagtatata tatgttttga caacttttct cactaataaa
Feature /change: atcaattaga caaataaata tcttttgtgt tggagttcac
Feature /change: ttagatgcag ttgatggtaa tcatttataa tgaagatata
Feature /change: caggtgatga tttactatta atcataatta gtattattca
Feature /change: gcaatatgca atgtaatccc atagactgct aagtcagaaa
Feature /change: tagatcatat tgccttttaa acacatatgc tattaaaaat
Feature /change: caggaaaaac attaagacaa atacttaaac ttatggctta
Feature /change: ataatgggta ttatctctat tcacctaaga tttaaggttt
Feature /change: ggttttgcac tgtgtttgtg gaatgaagta tgatgattga
Feature /change: aaatcatagt tttataacat tacttttact attacctctt
Feature /change: ttataaaaat ataggcagaa aagccctttc tattaaccac
Feature /change: atttgtaaat acattatatg cataatcttt taagttttag
Feature /change: ttcctggatc cttgccataa tactgagatg atgttagtct
Feature /change: aataacttgc ccacttactg gatttcatga ctataataaa
Feature /change: gaaaagcttc atttgataaa tagctctttt aaattggtaa
Feature /change: gagaacttgt ggttcagcag aatttttcat taacatacct
Feature /change: ttttttccaa tccagaatca caactttgtt gccagctgaa
Feature /change: gttctggtta cccataggat gtgcagcctt tgttgtagtc
Feature /change: tgcattttgg gatgcatact tatttgttgg cttacaaaaa
Feature /change: aggtaagcga tttctatctt tccttgtatc tgctttacag
Feature /change: atgcacatca gtgattattt cctcatcaaa agtacacatg
Feature /change: gctcttgtca gagta
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0039: 126..568
Feature /change: -gagaaatcaa tggttctgcc aattatgaga tgtttatatt
Feature /change: tcacaacgga ggtgtacaaa ttttatgcaa atatcctgac
Feature /change: attgtccagc aatttaaaat gcagttgctg aaaggggggc
Feature /change: aaatactctg cgatctcact aagacaaaag gaagtggaaa
Feature /change: cacagtgtcc attaagagtc tgaaattctg ccattctcag
Feature /change: ttatccaaca acagtgtctc tttttttcta tacaacttgg
Feature /change: accattctca tgccaactat tacttctgca acctatcaat
Feature /change: ttttgatcct cctcctttta aagtaactct tacaggagga
Feature /change: tatttgcata tttatgaatc acaactttgt tgccagctga
Feature /change: agttctggtt acccatagga tgtgcagcct ttgttgtagt
Feature /change: ctgcattttg ggatgcatac ttatttgttg gcttacaaaa
Feature /change: aag
Feature /note: skipping of exons 2 and 3
Feature /inexloc: -594
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6W8; ICOS_HUMAN: 20..167
Feature /change: GEINGSANYE MFIFHNGGVQ ILCKYPDIVQ QFKMQLLKGG
Feature /change: QILCDLTKTK GSGNTVSIKS LKFCHSQLSN NSVSFFLYNL
Feature /change: DHSHANYYFC NLSIFDPPPF KVTLTGGYLH IYESQLCCQL
Feature /change: KFWLPIGCAA FVVVCILGCI LICWLTKK
Feature /change: -> EVFIQCARPX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0039: 171583..173397
Feature /change: -gtttgatcaa caggtagaca attccttctc cccaagatat
Feature /change: acctactaat aaatgaagtt tttcctaaac ttcaactttt
Feature /change: cccatatctc tctgtttagc taagtgctac taatccttta
Feature /change: attccaattt taaaactcac ttcctcaagg cggcattttc
Feature /change: tgattctata atcaaaatta taacccacct gactctacca
Feature /change: ccttcattta aatagtactc cattcctatc acaaattatg
Feature /change: ttgcattact acatatttat tcctttacca tctgcctcca
Feature /change: atatgaaagc taccaaagga cagaggccat accagtttga
Feature /change: ttcatacaca ctatgtaaat atattattta atatttagta
Feature /change: tattctatat tcacatatga caagcaagtt tctggttagg
Feature /change: attttttttt ctctaggaca tagttttatc ttatgttctt
Feature /change: ccttgagggg tggagggaga atgtgaagct gtttcatttt
Feature /change: ggtgcaacag agatgacttt atgcattgaa taaattgctt
Feature /change: ttatgttaaa atataattat tagggcaaca ttataaaatg
Feature /change: tcacttttgc tttgttttct ttctttttat gcaggagaaa
Feature /change: tcaatggttc tgccaattat gagatgttta tatttcacaa
Feature /change: cggaggtgta caaattttat gcaaatatcc tgacattgtc
Feature /change: cagcaattta aaatgcagtt gctgaaaggg gggcaaatac
Feature /change: tctgcgatct cactaagaca aaaggaagtg gaaacacagt
Feature /change: gtccattaag agtctgaaat tctgccattc tcagttatcc
Feature /change: aacaacagtg tctctttttt tctatacaac ttggaccatt
Feature /change: ctcatgccaa ctattacttc tgcaacctat caatttttga
Feature /change: tcctcctcct tttaaagtaa ctcttacagg aggatatttg
Feature /change: catatttatg gtaagacatt gctttcatct tccaaactta
Feature /change: agagtatata tatgttttga caacttttct cactaataaa
Feature /change: atcaattaga caaataaata tcttttgtgt tggagttcac
Feature /change: ttagatgcag ttgatggtaa tcatttataa tgaagatata
Feature /change: caggtgatga tttactatta atcataatta gtattattca
Feature /change: gcaatatgca atgtaatccc atagactgct aagtcagaaa
Feature /change: tagatcatat tgccttttaa acacatatgc tattaaaaat
Feature /change: caggaaaaac attaagacaa atacttaaac ttatggctta
Feature /change: ataatgggta ttatctctat tcacctaaga tttaaggttt
Feature /change: ggttttgcac tgtgtttgtg gaatgaagta tgatgattga
Feature /change: aaatcatagt tttataacat tacttttact attacctctt
Feature /change: ttataaaaat ataggcagaa aagccctttc tattaaccac
Feature /change: atttgtaaat acattatatg cataatcttt taagttttag
Feature /change: ttcctggatc cttgccataa tactgagatg atgttagtct
Feature /change: aataacttgc ccacttactg gatttcatga ctataataaa
Feature /change: gaaaagcttc atttgataaa tagctctttt aaattggtaa
Feature /change: gagaacttgt ggttcagcag aatttttcat taacatacct
Feature /change: ttttttccaa tccagaatca caactttgtt gccagctgaa
Feature /change: gttctggtta cccataggat gtgcagcctt tgttgtagtc
Feature /change: tgcattttgg gatgcatact tatttgttgg cttacaaaaa
Feature /change: aggtaagcga tttctatctt tccttgtatc tgctttacag
Feature /change: atgcacatca gtgattattt cctcatcaaa agtacacatg
Feature /change: gctcttgtca gagta
Feature /genomic_region: intron; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0039: 126..568
Feature /change: -gagaaatcaa tggttctgcc aattatgaga tgtttatatt
Feature /change: tcacaacgga ggtgtacaaa ttttatgcaa atatcctgac
Feature /change: attgtccagc aatttaaaat gcagttgctg aaaggggggc
Feature /change: aaatactctg cgatctcact aagacaaaag gaagtggaaa
Feature /change: cacagtgtcc attaagagtc tgaaattctg ccattctcag
Feature /change: ttatccaaca acagtgtctc tttttttcta tacaacttgg
Feature /change: accattctca tgccaactat tacttctgca acctatcaat
Feature /change: ttttgatcct cctcctttta aagtaactct tacaggagga
Feature /change: tatttgcata tttatgaatc acaactttgt tgccagctga
Feature /change: agttctggtt acccatagga tgtgcagcct ttgttgtagt
Feature /change: ctgcattttg ggatgcatac ttatttgttg gcttacaaaa
Feature /change: aag
Feature /note: skipping of exons 2 and 3
Feature /inexloc: -594
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6W8; ICOS_HUMAN: 20..167
Feature /change: GEINGSANYE MFIFHNGGVQ ILCKYPDIVQ QFKMQLLKGG
Feature /change: QILCDLTKTK GSGNTVSIKS LKFCHSQLSN NSVSFFLYNL
Feature /change: DHSHANYYFC NLSIFDPPPF KVTLTGGYLH IYESQLCCQL
Feature /change: KFWLPIGCAA FVVVCILGCI LICWLTKK
Feature /change: -> EVFIQCARPX
Protein Defects of ICOS expression
Sex XY
Relative ICOSbase; I0007 sister
Relative ICOSbase; I0008 sister
Relative Other affected family members: Yes
IgA 0.2 mg/dl
IgG 0.54 mg/dl
IgM 0.43 mg/dl
//
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