Database SPINK5base
Version 1.1
File spink5pub.html
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/SPINK5base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF133.html
Gene SPINK5
Disease Netherton syndrome
OMIM 605010
GDB 9956114
Sequence IDRefSeq:D0080; IDRefSeq:C0080; UniProt:Q9NQ38
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID Q46X(1),@A80X98(2); standard; MUTATION; KAZ1,
Accession S0014
Systematic name Allele 1: g.7333C>T, c.136C>T, r.136c>u, p.Gln46X
Systematic name Allele 2: g.9132dupG, c.238dupG, r.238dupg, p.Ala80fsX19
Original code Family 1
Description Allele 1: a point mutation in the exon 3 leading to a
Description premature stop codon in the KAZ1 domain
Description Allele 2: a frame shift duplication in the exon 4 leading
Description to a premature stop codon
Date 08-Mar-2004 (Rel. 1, Created)
Date 08-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11511292
RefAuthors Sprecher, E., Chavanas, S., DiGiovanna, J. J., Amin, S.,
RefAuthors Nielsen, K., Prendiville, J. S., Silverman, R., Esterly,
RefAuthors N. B., Spraker, M. K., Guelig, E., de Luna, M. L.,
RefAuthors Williams, M. L., Buehler, B., Siegfried, E. C., Van
RefAuthors Maldergem, L., Pfendner, E., Bale, S. J., Uitto, J.,
RefAuthors Hovnanian, A., Richard, G.
RefTitle The spectrum of pathogenic mutations in SPINK5 in 19
RefTitle families with netherton syndrome: implications for
RefTitle mutation detection and first case of prenatal diagnosis.
RefLoc J Invest Dermatol 117:179-187 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 7333
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 179
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 46
Feature /change: Q -> X
Feature /domain: KAZ1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 9133
Feature /change: +g
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 282
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 80
Feature /change: A -> GQAFSKSSQG YCPNRAELX
Ethnic origin Caucasoid; Italy
//
ID #F51X57(1),#F51X57(1); standard; MUTATION; KAZ1,KAZ1
Accession S0002
Systematic name Allele 1 and 2: g.7350delT, c.153delT, r.153delu,
Systematic name p.Gln52fsX6
Original code Family 2
Description Allele 1 and 2: a frame shift deletion mutation in the
Description exon 3 leading to a premature stop codon in the KAZ1
Description domain
Date 05-Mar-2004 (Rel. 1, Created)
Date 05-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10835624
RefAuthors Chavanas, S., Bodemer, C., Rochat, A., Hamel-Teillac, D.,
RefAuthors Ali, M., Irvine, A. D., Bonafe, J. L., Wilkinson, J.,
RefAuthors Taxeb, A., Barrandon, Y., Harper, J. I., de Prost, Y.,
RefAuthors Hovnanian, A.
RefTitle Mutations in SPINK5, encoding a serine protease
RefTitle inhibitor, cause netherton syndrome.
RefLoc Nat Genet 25:141-142 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 7350
Feature /change: -t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 196
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 51
Feature /change: F -> FKVLMEX
Feature /domain: KAZ1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 7350
Feature /change: -t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 196
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 51
Feature /change: F -> FKVLMEX
Feature /domain: KAZ1
Ethnic origin Caucasoid; Turkey
//
ID #F51X57(2),#F51X57(2); standard; MUTATION; KAZ1,KAZ1
Accession S0003
Systematic name Allele 1 and 2: g.7350delT, c.153delT, r.153delu,
Systematic name p.Gln52fsX6
Original code Family 3
Description Allele 1 and 2: a frame shift deletion mutation in the
Description exon 3 leading to a premature stop codon in the KAZ1
Description domain
Date 05-Mar-2004 (Rel. 1, Created)
Date 05-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10835624
RefAuthors Chavanas, S., Bodemer, C., Rochat, A., Hamel-Teillac, D.,
RefAuthors Ali, M., Irvine, A. D., Bonafe, J. L., Wilkinson, J.,
RefAuthors Taxeb, A., Barrandon, Y., Harper, J. I., de Prost, Y.,
RefAuthors Hovnanian, A.
RefTitle Mutations in SPINK5, encoding a serine protease
RefTitle inhibitor, cause netherton syndrome.
RefLoc Nat Genet 25:141-142 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 7350
Feature /change: -t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 196
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 51
Feature /change: F -> FKVLMEX
Feature /domain: KAZ1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 7350
Feature /change: -t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 196
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 51
Feature /change: F -> FKVLMEX
Feature /domain: KAZ1
Ethnic origin Caucasoid; Turkey
//
ID Intron 2(4a),#F51X57(3a); standard; MUTATION; ,KAZ1
Accession S0044
Systematic name Allele 1: g.IVS2+2T>A, c.81+2T>A, r.81+2u>a,
Systematic name Allele 2: g.7350delT, c.153delT, r.153delu, p.Gln52fsX6
Original code Patient 15.1
Description Allele 1: a point mutation in the intron 2 leading to
Description aberrant splicing
Description Allele 2: a frame shift deletion in the exon 3 leading to
Description a premature stop codon in the KAZ1 domain
Date 12-Mar-2004 (Rel. 1, Created)
Date 12-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841556
RefAuthors Bitoun, E., Chavanas, S., Irvine, A. D., Lonie, L.,
RefAuthors Bodemer, C., Paradisi, M., Hamel-Teillac, D., Ansai, S.,
RefAuthors Mitsuhashi, Y., Taxeb, A., de Prost, Y., Zambruno, G.,
RefAuthors Harper, J. I., Hovnanian, A.
RefTitle Netherton syndrome: disease expression and spectrum of
RefTitle SPINK5 mutations in 21 families.
RefLoc J Invest Dermatol 118:352-361 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 2330
Feature /change: t -> a
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 7350
Feature /change: -t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 196
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 51
Feature /change: F -> FKVLMEX
Feature /domain: KAZ1
Symptoms Scaly erythroderma at birth, trichorrhexis invaginata,
Symptoms ichtyosis linearis circumflexa, excema-like rashes, hay
Symptoms fever, angioedema, hyper immunoglobulin E, failure to
Symptoms thrive, recurrent infections, hypernatremic dehydration,
Symptoms persistent pruritus, growth retardation, enteropathy
Ethnic origin Caucasoid; Kosovo
Relative SPINK5base; S0045 sibling
//
ID Intron 2(4b),#F51X57(3b); standard; MUTATION; ,KAZ1
Accession S0045
Systematic name Allele 1: g.IVS2+2T>A, c.81+2T>A, r.81+2u>a,
Systematic name Allele 2: g.7350delT, c.153delT, r.153delu, p.Gln52fsX6
Original code Patient 15.2
Description Allele 1: a point mutation in the intron 2 leading to an
Description amino acid change
Description Allele 2: a frame shift deletion in the exon 3 leading to
Description a premature stop codon in the KAZ1 domain
Date 12-Mar-2004 (Rel. 1, Created)
Date 12-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841556
RefAuthors Bitoun, E., Chavanas, S., Irvine, A. D., Lonie, L.,
RefAuthors Bodemer, C., Paradisi, M., Hamel-Teillac, D., Ansai, S.,
RefAuthors Mitsuhashi, Y., Taxeb, A., de Prost, Y., Zambruno, G.,
RefAuthors Harper, J. I., Hovnanian, A.
RefTitle Netherton syndrome: disease expression and spectrum of
RefTitle SPINK5 mutations in 21 families.
RefLoc J Invest Dermatol 118:352-361 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 2330
Feature /change: t -> a
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 7350
Feature /change: -t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 196
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 51
Feature /change: F -> FKVLMEX
Feature /domain: KAZ1
Symptoms Scaly erythroderma at birth, excema-like rashes, hay fever,
Symptoms angioedema, hyper immunoglobulin E, asthma, failure to
Symptoms thrive, recurrent infections, hypernatremic dehydration,
Symptoms persistent pruritus, growth retardation, enteropathy
Ethnic origin Caucasoid; Kosovo
Relative SPINK5base; S0044 sibling
//
ID #F51X57(4),#F51X57(4); standard; MUTATION; KAZ1,KAZ1
Accession S0046
Systematic name Allele 1 and 2: g.7350delT, c.153delT, r.153delu,
Systematic name p.Gln52fsX6
Original code Patient 16
Description Allele 1 and 2: a frame shift deletion mutation in the
Description exon 3 leading to a premature stop codon in the KAZ1
Description domain
Date 12-Mar-2004 (Rel. 1, Created)
Date 12-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841556
RefAuthors Bitoun, E., Chavanas, S., Irvine, A. D., Lonie, L.,
RefAuthors Bodemer, C., Paradisi, M., Hamel-Teillac, D., Ansai, S.,
RefAuthors Mitsuhashi, Y., Taxeb, A., de Prost, Y., Zambruno, G.,
RefAuthors Harper, J. I., Hovnanian, A.
RefTitle Netherton syndrome: disease expression and spectrum of
RefTitle SPINK5 mutations in 21 families.
RefLoc J Invest Dermatol 118:352-361 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 7350
Feature /change: -t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 196
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 51
Feature /change: F -> FKVLMEX
Feature /domain: KAZ1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 7350
Feature /change: -t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 196
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 51
Feature /change: F -> FKVLMEX
Feature /domain: KAZ1
Symptoms Scaly erythroderma at birth, trichorrhexis invaginata,
Symptoms excema-like rashes, hay fever, hyper immunoglobulin E,
Symptoms failure to thrive, recurrent infections, hypernatremic
Symptoms dehydration, growth retardation, enteropathy
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
//
ID #F51X57(5),#F51X57(5); standard; MUTATION; KAZ1,KAZ1
Accession S0047
Systematic name Allele 1 and 2: g.7350delT, c.153delT, r.153delu,
Systematic name p.Gln52fsX6
Original code Patient 17
Description Allele 1 and 2: a frame shift deletion mutation in the
Description exon 3 leading to a premature stop codon in the KAZ1
Description domain
Date 12-Mar-2004 (Rel. 1, Created)
Date 12-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841556
RefAuthors Bitoun, E., Chavanas, S., Irvine, A. D., Lonie, L.,
RefAuthors Bodemer, C., Paradisi, M., Hamel-Teillac, D., Ansai, S.,
RefAuthors Mitsuhashi, Y., Taxeb, A., de Prost, Y., Zambruno, G.,
RefAuthors Harper, J. I., Hovnanian, A.
RefTitle Netherton syndrome: disease expression and spectrum of
RefTitle SPINK5 mutations in 21 families.
RefLoc J Invest Dermatol 118:352-361 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 7350
Feature /change: -t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 196
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 51
Feature /change: F -> FKVLMEX
Feature /domain: KAZ1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 7350
Feature /change: -t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 196
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 51
Feature /change: F -> FKVLMEX
Feature /domain: KAZ1
Symptoms Scaly erythroderma at birth
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Comment Patient died during neonatal period as a result of
Comment dehydration or sepsis
//
ID #F51X57(6),#F51X57(6); standard; MUTATION; KAZ1,KAZ1
Accession S0048
Systematic name Allele 1 and 2: g.7350delT, c.153delT, r.153delu,
Systematic name p.Gln52fsX6
Original code Patient 18
Description Allele 1 and 2: a frame shift deletion mutation in the
Description exon 3 leading to a premature stop codon in the KAZ1
Description domain
Date 12-Mar-2004 (Rel. 1, Created)
Date 12-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841556
RefAuthors Bitoun, E., Chavanas, S., Irvine, A. D., Lonie, L.,
RefAuthors Bodemer, C., Paradisi, M., Hamel-Teillac, D., Ansai, S.,
RefAuthors Mitsuhashi, Y., Taxeb, A., de Prost, Y., Zambruno, G.,
RefAuthors Harper, J. I., Hovnanian, A.
RefTitle Netherton syndrome: disease expression and spectrum of
RefTitle SPINK5 mutations in 21 families.
RefLoc J Invest Dermatol 118:352-361 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 7350
Feature /change: -t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 196
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 51
Feature /change: F -> FKVLMEX
Feature /domain: KAZ1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 7350
Feature /change: -t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 196
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 51
Feature /change: F -> FKVLMEX
Feature /domain: KAZ1
Symptoms Scaly erythroderma at birth, trichorrhexis invaginata,
Symptoms excema-like rashes, angioedema, hyper immunoglobulin E,
Symptoms asthma, failure to thrive, recurrent infections
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Comment Patient died during neonatal period as a result of
Comment dehydration or sepsis
//
ID #F51X57(7a),#F51X57(7a); standard; MUTATION; KAZ1,KAZ1
Accession S0049
Systematic name Allele 1 and 2: g.7350delT, c.153delT, r.153delu,
Systematic name p.Gln52fsX6
Original code Patient 19.1
Description Allele 1 and 2: a frame shift deletion mutation in the
Description exon 3 leading to a premature stop codon in the KAZ1
Description domain
Date 12-Mar-2004 (Rel. 1, Created)
Date 12-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841556
RefAuthors Bitoun, E., Chavanas, S., Irvine, A. D., Lonie, L.,
RefAuthors Bodemer, C., Paradisi, M., Hamel-Teillac, D., Ansai, S.,
RefAuthors Mitsuhashi, Y., Taxeb, A., de Prost, Y., Zambruno, G.,
RefAuthors Harper, J. I., Hovnanian, A.
RefTitle Netherton syndrome: disease expression and spectrum of
RefTitle SPINK5 mutations in 21 families.
RefLoc J Invest Dermatol 118:352-361 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 7350
Feature /change: -t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 196
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 51
Feature /change: F -> FKVLMEX
Feature /domain: KAZ1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 7350
Feature /change: -t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 196
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 51
Feature /change: F -> FKVLMEX
Feature /domain: KAZ1
Symptoms Scaly erythroderma at birth
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Relative SPINK5base; S0050 sibling
Comment Patient died during neonatal period as a result of
Comment dehydration or sepsis
//
ID #F51X57(7b),#F51X57(7b); standard; MUTATION; KAZ1,KAZ1
Accession S0050
Systematic name Allele 1 and 2: g.7350delT, c.153delT, r.153delu,
Systematic name p.Gln52fsX6
Original code Patient 19.2
Description Allele 1 and 2: a frame shift deletion mutation in the
Description exon 3 leading to a premature stop codon in the KAZ1
Description domain
Date 12-Mar-2004 (Rel. 1, Created)
Date 12-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841556
RefAuthors Bitoun, E., Chavanas, S., Irvine, A. D., Lonie, L.,
RefAuthors Bodemer, C., Paradisi, M., Hamel-Teillac, D., Ansai, S.,
RefAuthors Mitsuhashi, Y., Taxeb, A., de Prost, Y., Zambruno, G.,
RefAuthors Harper, J. I., Hovnanian, A.
RefTitle Netherton syndrome: disease expression and spectrum of
RefTitle SPINK5 mutations in 21 families.
RefLoc J Invest Dermatol 118:352-361 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 7350
Feature /change: -t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 196
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 51
Feature /change: F -> FKVLMEX
Feature /domain: KAZ1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 7350
Feature /change: -t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 196
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 51
Feature /change: F -> FKVLMEX
Feature /domain: KAZ1
Symptoms Scaly erythroderma at birth, trichorrhexis invaginata,
Symptoms ichtyosis linearis circumflexa, atopic dermatitis, hyper
Symptoms immunoglobulin E, hypereosinophilia, failure to thrive,
Symptoms recurrent infections, hypernatremic dehydration, growth
Symptoms retardation
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Relative SPINK5base; S0049 sibling
//
ID #F51X57(8),#F51X57(8); standard; MUTATION; KAZ1,KAZ1
Accession S0053
Systematic name Allele 1 and 2: g.7350delT, c.153delT, r.153delu,
Systematic name p.Gln52fsX6
Description Allele 1 and 2: a frame shift deletion mutation in the
Description exon 3 leading to a premature stop codon in the KAZ1
Description domain
Date 15-Mar-2004 (Rel. 1, Created)
Date 15-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11952552
RefAuthors Muller, F. B., Hausser, I., Berg, D., Casper, C.,
RefAuthors Maiwald, R., Jung, A., Jung, H., Korge, B. P.
RefTitle Genetic analysis of a severe case of netherton syndrome
RefTitle and application for prenatal testing.
RefLoc Br J Dermatol 146:495-499 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 7350
Feature /change: -t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 196
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 51
Feature /change: F -> FKVLMEX
Feature /domain: KAZ1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 7350
Feature /change: -t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 196
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 51
Feature /change: F -> FKVLMEX
Feature /domain: KAZ1
Symptoms Erythroderma accompanied by silvery white, exfoliative
Symptoms scaling, accentuated in the area of the elbows, knees,
Symptoms cheeks and scalp, high IgE levels and aminoaciduria
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
//
ID @A80X98(1),@A80X98(1); standard; MUTATION;
Accession S0004
Systematic name Allele 1 and 2: g.9132dupG, c.238dupG, r.238dupg,
Systematic name p.Ala80fsX19
Original code Family 4
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 4 leading to a premature stop codon
Date 05-Mar-2004 (Rel. 1, Created)
Date 05-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10835624
RefAuthors Chavanas, S., Bodemer, C., Rochat, A., Hamel-Teillac, D.,
RefAuthors Ali, M., Irvine, A. D., Bonafe, J. L., Wilkinson, J.,
RefAuthors Taxeb, A., Barrandon, Y., Harper, J. I., de Prost, Y.,
RefAuthors Hovnanian, A.
RefTitle Mutations in SPINK5, encoding a serine protease
RefTitle inhibitor, cause netherton syndrome.
RefLoc Nat Genet 25:141-142 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 9133
Feature /change: +g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 282
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 80
Feature /change: A -> GQAFSKSSQG YCPNRAELX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 9133
Feature /change: +g
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 282
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 80
Feature /change: A -> GQAFSKSSQG YCPNRAELX
//
ID @A80X98(3),@A80X98(3); standard; MUTATION;
Accession S0020
Systematic name Allele 1 and 2: g.9132dupG, c.238dupG, r.238dupg,
Systematic name p.Ala80fsX19
Original code Family 7c
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 4 leading to a premature stop codon
Date 09-Mar-2004 (Rel. 1, Created)
Date 09-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11511292
RefAuthors Sprecher, E., Chavanas, S., DiGiovanna, J. J., Amin, S.,
RefAuthors Nielsen, K., Prendiville, J. S., Silverman, R., Esterly,
RefAuthors N. B., Spraker, M. K., Guelig, E., de Luna, M. L.,
RefAuthors Williams, M. L., Buehler, B., Siegfried, E. C., Van
RefAuthors Maldergem, L., Pfendner, E., Bale, S. J., Uitto, J.,
RefAuthors Hovnanian, A., Richard, G.
RefTitle The spectrum of pathogenic mutations in SPINK5 in 19
RefTitle families with netherton syndrome: implications for
RefTitle mutation detection and first case of prenatal diagnosis.
RefLoc J Invest Dermatol 117:179-187 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 9133
Feature /change: +g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 282
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 80
Feature /change: A -> GQAFSKSSQG YCPNRAELX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 9133
Feature /change: +g
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 282
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 80
Feature /change: A -> GQAFSKSSQG YCPNRAELX
Ethnic origin Puerto-Rican
//
ID @A80X98(4),@A80X98(4); standard; MUTATION;
Accession S0021
Systematic name Allele 1 and 2: g.9132dupG, c.238dupG, r.238dupg,
Systematic name p.Ala80fsX19
Original code Family 8c
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 4 leading to a premature stop codon
Date 09-Mar-2004 (Rel. 1, Created)
Date 09-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11511292
RefAuthors Sprecher, E., Chavanas, S., DiGiovanna, J. J., Amin, S.,
RefAuthors Nielsen, K., Prendiville, J. S., Silverman, R., Esterly,
RefAuthors N. B., Spraker, M. K., Guelig, E., de Luna, M. L.,
RefAuthors Williams, M. L., Buehler, B., Siegfried, E. C., Van
RefAuthors Maldergem, L., Pfendner, E., Bale, S. J., Uitto, J.,
RefAuthors Hovnanian, A., Richard, G.
RefTitle The spectrum of pathogenic mutations in SPINK5 in 19
RefTitle families with netherton syndrome: implications for
RefTitle mutation detection and first case of prenatal diagnosis.
RefLoc J Invest Dermatol 117:179-187 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 9133
Feature /change: +g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 282
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 80
Feature /change: A -> GQAFSKSSQG YCPNRAELX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 9133
Feature /change: +g
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 282
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 80
Feature /change: A -> GQAFSKSSQG YCPNRAELX
Ethnic origin Iranian
//
ID @A80X98(5),?; standard; MUTATION;
Accession S0036
Systematic name Allele 1: g.9132dupG, c.238dupG, r.238dupg,
Systematic name p.Ala80fsX19
Original code Patient 9
Description Allele 1: a frame shift duplication mutation in the
Description exon 4 leading to a premature stop codon
Date 12-Mar-2004 (Rel. 1, Created)
Date 12-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841556
RefAuthors Bitoun, E., Chavanas, S., Irvine, A. D., Lonie, L.,
RefAuthors Bodemer, C., Paradisi, M., Hamel-Teillac, D., Ansai, S.,
RefAuthors Mitsuhashi, Y., Taxeb, A., de Prost, Y., Zambruno, G.,
RefAuthors Harper, J. I., Hovnanian, A.
RefTitle Netherton syndrome: disease expression and spectrum of
RefTitle SPINK5 mutations in 21 families.
RefLoc J Invest Dermatol 118:352-361 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 9133
Feature /change: +g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 282
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 80
Feature /change: A -> GQAFSKSSQG YCPNRAELX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Scaly erythroderma at birth, trichorrhexis invaginata,
Symptoms excema-like rashes, angioedema, atopic dermatitis, hay
Symptoms fever, hyper immunoglobulin E, hypereosinophilia,
Symptoms urticaria, failure to thrive, recurrent infections,
Symptoms hypernatremic dehydration, persistent pruritus, growth
Symptoms retardation, enteropathy
Ethnic origin Caucasoid; France
//
ID @A80X98(6a),R217X(1a); standard; MUTATION;
Accession S0038
Systematic name Allele 1: g.9132dupG, c.238dupG, r.238dupg, p.Ala80fsX19
Systematic name Allele 2: g.28167C>T, c.649C>T, r.649c>u, p.Arg217X
Original code Patient 12.1
Description Allele 1: a frame shift duplication mutation in the exon 4
Description leading to a premature stop codon
Description Allele 2: a point mutation in the exon 8 leading to a
Description premature stop codon
Date 12-Mar-2004 (Rel. 1, Created)
Date 12-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841556
RefAuthors Bitoun, E., Chavanas, S., Irvine, A. D., Lonie, L.,
RefAuthors Bodemer, C., Paradisi, M., Hamel-Teillac, D., Ansai, S.,
RefAuthors Mitsuhashi, Y., Taxeb, A., de Prost, Y., Zambruno, G.,
RefAuthors Harper, J. I., Hovnanian, A.
RefTitle Netherton syndrome: disease expression and spectrum of
RefTitle SPINK5 mutations in 21 families.
RefLoc J Invest Dermatol 118:352-361 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 9133
Feature /change: +g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 282
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 80
Feature /change: A -> GQAFSKSSQG YCPNRAELX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 28167
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 692
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 217
Feature /change: R -> X
Symptoms Scaly erythroderma at birth, trichorrhexis invaginata,
Symptoms angio-edema, asthma, hyper immunoglobulin E,
Symptoms failure to thrive, recurrent infections, hypernatremic
Symptoms dehydration, persistent pruritus, growth retardation
Ethnic origin Caucasoid; Italy
Relative SPINK5base; S0039 sibling
//
ID @A80X98(6b),R217X(1b); standard; MUTATION;
Accession S0039
Systematic name Allele 1: g.9132dupG, c.238dupG, r.238dupg, p.Ala80fsX19
Systematic name Allele 2: g.28167C>T, c.649C>T, r.649c>u, p.Arg217X
Original code Patient 12.2
Description Allele 1: a frame shift duplication mutation in the exon 4
Description leading to a premature stop codon
Description Allele 2: a point mutation in the exon 8 leading to a
Description premature stop codon
Date 12-Mar-2004 (Rel. 1, Created)
Date 12-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841556
RefAuthors Bitoun, E., Chavanas, S., Irvine, A. D., Lonie, L.,
RefAuthors Bodemer, C., Paradisi, M., Hamel-Teillac, D., Ansai, S.,
RefAuthors Mitsuhashi, Y., Taxeb, A., de Prost, Y., Zambruno, G.,
RefAuthors Harper, J. I., Hovnanian, A.
RefTitle Netherton syndrome: disease expression and spectrum of
RefTitle SPINK5 mutations in 21 families.
RefLoc J Invest Dermatol 118:352-361 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 9133
Feature /change: +g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 282
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 80
Feature /change: A -> GQAFSKSSQG YCPNRAELX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 28167
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 692
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 217
Feature /change: R -> X
Symptoms Scaly erythroderma at birth, trichorrhexis invaginata,
Symptoms angio-edema, hyper immunoglobulin E, recurrent infections,
Symptoms persistent pruritus
Ethnic origin Caucasoid; Italy
Relative SPINK5base; S0038 sibling
//
ID G103X(1),Intron 23(1); standard; MUTATION; KAZ2,
Accession S0015
Systematic name Allele 1: g.23385G>T, c.307G>T, r.307g>u, p.Gly103X
Systematic name Allele 2: g.53418_53427delCTCAGGTGAG,
Systematic name c.2108_2117delCTCAGGTGAG, r.2108_2117delcucaggugag
Original code Family 2
Description Allele 1: a point mutation in the exon 5 leading to a
Description premature stop codon in the KAZ2 domain
Description Allele 2: a deletion in the exon 22 and intron 23
Description leading to aberrant splicing
Date 08-Mar-2004 (Rel. 1, Created)
Date 08-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11511292
RefAuthors Sprecher, E., Chavanas, S., DiGiovanna, J. J., Amin, S.,
RefAuthors Nielsen, K., Prendiville, J. S., Silverman, R., Esterly,
RefAuthors N. B., Spraker, M. K., Guelig, E., de Luna, M. L.,
RefAuthors Williams, M. L., Buehler, B., Siegfried, E. C., Van
RefAuthors Maldergem, L., Pfendner, E., Bale, S. J., Uitto, J.,
RefAuthors Hovnanian, A., Richard, G.
RefTitle The spectrum of pathogenic mutations in SPINK5 in 19
RefTitle families with netherton syndrome: implications for
RefTitle mutation detection and first case of prenatal diagnosis.
RefLoc J Invest Dermatol 117:179-187 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 23385
Feature /change: g -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 350
Feature /codon: gga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 103
Feature /change: G -> X
Feature /domain: KAZ2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 53418..53427
Feature /change: -ctcaggtgag
Feature /genomic_region: exon; 22, intron; 23
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Ethnic origin Caucasoid; Germany/Ireland
//
ID #V118X144(1),Intron 15(4); standard; MUTATION; KAZ2,
Accession S0079
Systematic name Allele 1: g.23432_23435delTTGT, c.354_357delTTGT,
Systematic name r.354_357deluugu, p.Cys119fsX26
Systematic name Allele 2: g.41896G>A, c.1431-12G>A, r.1431-12g>a
Original code P.1
Description Allele 1: A frame shift deletion mutation in the exon
Description 5 leading to a premature stop codon in the KAZ2 domain
Description Allele 2: A point mutation in the intron 15 leading
Description to aberrant splicing
Date 27-Jul-2010 (Rel. 1, Created)
Date 27-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19683336
RefAuthors Renner, E. D., Hartl, D., Rylaarsdam, S., Young, M. L.,
RefAuthors Monaco-Shawver, L., Kleiner, G., Markert, M. L., Stiehm,
RefAuthors E. R., Belohradsky, B. H., Upton, M. P., Torgerson, T. R.,
RefAuthors Orange, J. S., Ochs, H. D.
RefTitle Comèl-netherton syndrome defined as primary
RefTitle immunodeficiency.
RefLoc J Allergy Clin Immunol:536-543 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 23432..23435
Feature /change: -ttgt
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080; GI:4585698; SPINK5C: 397..400
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 118..119
Feature /change: VC -> VAQMGKHMTT DVHCVLRMRK PGPKLVX
Feature /domain: KAZ2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 41896
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -12
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Congenital ichthyosis; Bamboo hair; Eczema; Food allergy;
Symptoms Recurrent skin, GIT and respiratory tract infections;
Symptoms Sepsis; Failure to thrive;
Age 0.5
Sex XX
//
ID #T125X126(1),@D322X342(1); standard; MUTATION; KAZ2,KAZ5
Accession S0069
Systematic name Allele 1: g.23453_23454delAT, c.375_376delAT,
Systematic name r.375_376delau, p.Tyr126fsX1
Systematic name Allele 2: g.34905_34906insC, c.965_966insC, r.965_966insc,
Systematic name p.Gly323fsX20
Description Allele 1: A frame shift deletion mutation in the exon 5
Description leading to a premature stop codon in the KAZ2 domain
Description Allele 2: A frame shift insertion mutation in the exon 11
Description leading to a premature stop codon in the KAZ5 domain
Date 03-Jun-2008 (Rel. 1, Created)
Date 03-Jun-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16901309
RefAuthors Mizuno, Y., Suga, Y., Haruna, K., Muramatsu, S., Hasegawa,
RefAuthors T., Kohroh, K., Shimizu, T., Komatsu, N., Ogawa, H.,
RefAuthors Ikeda, S.
RefTitle A case of a japanese neonate with congenital ichthyosiform
RefTitle erythroderma diagnosed as netherton syndrome.
RefLoc Clin Exp Dermatol:677-680 (2006)
RefNumber [2]
RefCrossRef PUBMED; 17989726
RefAuthors Komatsu, N., Saijoh, K., Jayakumar, A., Clayman, G. L.,
RefAuthors Tohyama, M., Suga, Y., Mizuno, Y., Tsukamoto, K.,
RefAuthors Taniuchi, K., Takehara, K., Diamandis, E. P.
RefTitle Correlation between SPINK5 gene mutations and clinical
RefTitle manifestations in netherton syndrome patients.
RefLoc J Invest Dermatol:1148-1159 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 23453..23454
Feature /change: -at
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080; GI:4585698; SPINK5C: 418..419
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 125..126
Feature /change: TY -> TX
Feature /domain: KAZ2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0080: 34906
Feature /change: +c
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080; GI:4585698; SPINK5C: 1009
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 322
Feature /change: D -> DWENAWQLVF HVSSLLPSRK X
Feature /domain: KAZ5
Symptoms congenital ichtyosiform erythroderma (particularly
Symptoms accentuated on head and face), nonspecific acanthotic
Symptoms psoriasiform epidermis with hypogranulosis covered by
Symptoms parakeratotic stratum corneum, mild perivascular
Symptoms lymphohistiocytic infiltrate, exfoliated corneocytes in the
Symptoms uppermost stratum corneum (SC), trypsin-like hydrolytic
Symptoms activity in the SC, erythroderma became localized to the
Symptoms axillae and groin, trichorrhexis invaginata
Sex XX
Ethnic origin Mongoloid; Japan
Parents Non-consanguineous
//
ID Y126X(1a),R790X(3a); standard; MUTATION; KAZ2,KAZ12
Accession S0051
Systematic name Allele 1: g.23455_23456delAT, c.377_378delAT,
Systematic name r.377_378delau, p.Tyr126X
Systematic name Allele 2: g.57019C>T, c.2368C>T, r.2368c>u, p.Arg790X
Original code Patient 21.1
Description Allele 1: a deletion mutation in the exon 5 leading to a
Description premature stop codon in the KAZ2 domain
Description Allele 2: a point mutation in the exon 25 leading to a
Description premature stop codon in the KAZ12 domain
Date 15-Mar-2004 (Rel. 1, Created)
Date 15-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841556
RefAuthors Bitoun, E., Chavanas, S., Irvine, A. D., Lonie, L.,
RefAuthors Bodemer, C., Paradisi, M., Hamel-Teillac, D., Ansai, S.,
RefAuthors Mitsuhashi, Y., Taxeb, A., de Prost, Y., Zambruno, G.,
RefAuthors Harper, J. I., Hovnanian, A.
RefTitle Netherton syndrome: disease expression and spectrum of
RefTitle SPINK5 mutations in 21 families.
RefLoc J Invest Dermatol 118:352-361 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 23455..23456
Feature /change: -at
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 420..421
Feature /codon: tat -> tga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 126
Feature /change: Y -> X
Feature /domain: KAZ2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 57019
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 25
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 2411
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 790
Feature /change: R -> X
Feature /domain: KAZ12
Symptoms Scaly erythroderma at birth, trichorrhexis invaginata,
Symptoms eczema-like rashes, hyper immunoglobulin E, failure to
Symptoms thrive, recurrent infections, hypernatremic dehydration,
Symptoms persistent pruritus
Ethnic origin Mongoloid; Japan
Relative SPINK5base; S0052 sibling
//
ID Y126X(1b),R790X(3b); standard; MUTATION; KAZ2,KAZ12
Accession S0052
Systematic name Allele 1: g.23455_23456delAT, c.377_378delAT,
Systematic name r.377_378delau, p.Tyr126X
Systematic name Allele 2: g.57019C>T, c.2368C>T, r.2368c>u, p.Arg790X
Original code Patient 21.2
Description Allele 1: a deletion mutation in the exon 5 leading to a
Description premature stop codon in the KAZ2 domain
Description Allele 2: a point mutation in the exon 25 leading to a
Description premature stop codon in the KAZ12 domain
Date 15-Mar-2004 (Rel. 1, Created)
Date 15-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841556
RefAuthors Bitoun, E., Chavanas, S., Irvine, A. D., Lonie, L.,
RefAuthors Bodemer, C., Paradisi, M., Hamel-Teillac, D., Ansai, S.,
RefAuthors Mitsuhashi, Y., Taxeb, A., de Prost, Y., Zambruno, G.,
RefAuthors Harper, J. I., Hovnanian, A.
RefTitle Netherton syndrome: disease expression and spectrum of
RefTitle SPINK5 mutations in 21 families.
RefLoc J Invest Dermatol 118:352-361 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 23455..23456
Feature /change: -at
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 420..421
Feature /codon: tat -> tga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 126
Feature /change: Y -> X
Feature /domain: KAZ2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 57019
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 25
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 2411
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 790
Feature /change: R -> X
Feature /domain: KAZ12
Symptoms Scaly erythroderma at birth, trichorrhexis invaginata,
Symptoms eczema-like rashes, hyper immunoglobulin E, failure to
Symptoms thrive, persistent pruritus
Ethnic origin Mongoloid; Japan
Relative SPINK5base; S0051 sibling
//
ID Y126X(2a),E541X(1a); standard; MUTATION; KAZ2,KAZ8
Accession S0074
Systematic name Allele 1: g.23455_23456delAT, c.377_378delAT,
Systematic name r.377_378delau, p.Tyr126X
Systematic name Allele 2: g.45722G>T, c.1621G>T, r.1621g>u, p.Glu541X
Original code Siblings in family A, male
Description Allele 1: A deletion mutation in the exon 5 leading to a
Description premature stop codon in the KAZ2 domain
Description Allele 2: A point mutation in the exon 18 leading to a
Description premature stop codon in the KAZ8 domain
Date 04-Jun-2008 (Rel. 1, Created)
Date 04-Jun-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11874482
RefAuthors Komatsu, N., Takata, M., Otsuki, N., Ohka, R., Amano, O.,
RefAuthors Takehara, K., Saijoh, K.
RefTitle Elevated stratum corneum hydrolytic activity in netherton
RefTitle syndrome suggests an inhibitory regulation of desquamation
RefTitle by SPINK5-derived peptides.
RefLoc J Invest Dermatol:436-443 (2002)
Reference
Reference
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 23455..23456
Feature /change: -at
Feature /genomic_region: exon; 18
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080; GI:4585698; SPINK5C: 420..421
Feature /codon: tat -> tga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 126
Feature /change: Y -> X
Feature /domain: KAZ2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 45722
Feature /change: g -> t
Feature /genomic_region: exon; 18
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080; GI:4585698; SPINK5C: 1664
Feature /codon: gaa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 541
Feature /change: E -> X
Feature /domain: KAZ8
Symptoms severe erythroderma covered with a collodion-like membrane,
Symptoms temperature instability, dehydration, skin infections until
Symptoms adolescence, generalized exfoliative erythroderma with
Symptoms pruritus and burning irritation
Sex XY
Ethnic origin Mongoloid; Japan
Relative SPINK5base; S0075sister
//
ID Y126X(2b),E541X(1b); standard; MUTATION; KAZ2,KAZ8
Accession S0075
Systematic name Allele 1: g.23455_23456delAT, c.377_378delAT,
Systematic name r.377_378delau, p.Tyr126X
Systematic name Allele 2: g.45722G>T, c.1621G>T, r.1621g>u, p.Glu541X
Original code Siblings in family A, female (Ref1); Patient C (Ref2)
Description Allele 1: A deletion mutation in the exon 5 leading to a
Description premature stop codon in the KAZ2 domain
Description Allele 2: A point mutation in the exon 18 leading to a
Description premature stop codon in the KAZ8 domain
Date 04-Jun-2008 (Rel. 1, Created)
Date 04-Jun-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11874482
RefAuthors Komatsu, N., Takata, M., Otsuki, N., Ohka, R., Amano, O.,
RefAuthors Takehara, K., Saijoh, K.
RefTitle Elevated stratum corneum hydrolytic activity in netherton
RefTitle syndrome suggests an inhibitory regulation of desquamation
RefTitle by SPINK5-derived peptides.
RefLoc J Invest Dermatol:436-443 (2002)
RefNumber [2]
RefCrossRef PUBMED; 17989726
RefAuthors Komatsu, N., Saijoh, K., Jayakumar, A., Clayman, G. L.,
RefAuthors Tohyama, M., Suga, Y., Mizuno, Y., Tsukamoto, K.,
RefAuthors Taniuchi, K., Takehara, K., Diamandis, E. P.
RefTitle Correlation between SPINK5 gene mutations and clinical
RefTitle manifestations in netherton syndrome patients.
RefLoc J Invest Dermatol:1148-1159 (2008)
Reference
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 23455..23456
Feature /change: -at
Feature /genomic_region: exon; 18
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080; GI:4585698; SPINK5C: 420..421
Feature /codon: tat -> tga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 126
Feature /change: Y -> X
Feature /domain: KAZ2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 45722
Feature /change: g -> t
Feature /genomic_region: exon; 18
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080; GI:4585698; SPINK5C: 1664
Feature /codon: gaa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 541
Feature /change: E -> X
Feature /domain: KAZ8
Symptoms severe erythroderma covered with a collodion-like membrane,
Symptoms temperature instability, dehydration, skin infections until
Symptoms adolescence, generalized exfoliative erythroderma with
Symptoms pruritus and burning irritation
Sex XX
Ethnic origin Mongoloid; Japan
Relative SPINK5base; S0074brother
Comment improved with age
//
ID Y126X(3),@C239X244(2); standard; MUTATION; KAZ2,KAZ4
Accession S0076
Systematic name Allele 1: g.23455_23456delAT, c.377_378delAT,
Systematic name r.377_378delau, p.Tyr126X
Systematic name Allele 2: g.31358dupT, c.715dupT, r.715dupu, p.Cys239fsX6
Original code Patient A
Description Allele 1: A deletion mutation in the exon 5 leading to a
Description premature stop codon in the KAZ2 domain
Description Allele 2: A frame shift duplication mutation in the exon 9
Description leading to a premature stop codon in the KAZ4 domain
Date 04-Jun-2008 (Rel. 1, Created)
Date 04-Jun-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17989726
RefAuthors Komatsu, N., Saijoh, K., Jayakumar, A., Clayman, G. L.,
RefAuthors Tohyama, M., Suga, Y., Mizuno, Y., Tsukamoto, K.,
RefAuthors Taniuchi, K., Takehara, K., Diamandis, E. P.
RefTitle Correlation between SPINK5 gene mutations and clinical
RefTitle manifestations in netherton syndrome patients.
RefLoc J Invest Dermatol:1148-1159 (2008)
RefNumber [2]
RefAuthors Hanakawa Y., Tohyama M., Hanakawa Y., Murakami S.,
RefAuthors Hashimoto K., Komatsu N.
RefTitle A case report of Netherton syndrome: a significant increase
RefTitle in blood tacrolims levels after a clinical trial of 0.1%
RefTitle topical tacrolims
RefLoc Jpn J Dermatol 115:1615-21 (2005)
Reference
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 23455..23456
Feature /change: -at
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080; GI:4585698; SPINK5C: 420..421
Feature /codon: tat -> tga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 126
Feature /change: Y -> X
Feature /domain: KAZ2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 31359
Feature /change: +t
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080; GI:4585698; SPINK5C: 759
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 239
Feature /change: C -> LYTGEX
Feature /domain: KAZ4
Symptoms consistent erythroderma on non-palm/sole region, severe
Symptoms peeling on palms/soles, pain/irritation in denuded skin,
Symptoms percutaneous over-absorption, frequent skin infection,
Symptoms asthma
Sex XX
Ethnic origin Mongoloid; Japan
Comment no improvement
//
ID Y126X(4),R790X(9); standard; MUTATION; KAZ2,KAZ12
Accession S0077
Systematic name Allele 1: g.23455_23456delAT, c.377_378delAT,
Systematic name r.377_378delau, p.Tyr126X
Systematic name Allele 2: g.57019C>T, c.2368C>T, r.2368c>u, p.Arg790X
Original code Patient D
Description Allele 1: A deletion mutation in the exon 5 leading to a
Description premature stop codon in the KAZ2 domain
Description Allele 2: A point mutation in the exon 25 leading to a
Description premature stop codon in the KAZ12 domain
Date 04-Jun-2008 (Rel. 1, Created)
Date 04-Jun-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17989726
RefAuthors Komatsu, N., Saijoh, K., Jayakumar, A., Clayman, G. L.,
RefAuthors Tohyama, M., Suga, Y., Mizuno, Y., Tsukamoto, K.,
RefAuthors Taniuchi, K., Takehara, K., Diamandis, E. P.
RefTitle Correlation between SPINK5 gene mutations and clinical
RefTitle manifestations in netherton syndrome patients.
RefLoc J Invest Dermatol:1148-1159 (2008)
RefNumber [2]
RefAuthors Tsukamoto K., Nagata A., Kodera H., Mitsui H., Ando N.,
RefAuthors Kitamura R., et al.
RefTitle A case report of Netherton syndrome with genetic analysis
RefTitle of SPINK5
RefLoc Keratinization Assoc 18:82-5
Reference
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 23455..23456
Feature /change: -at
Feature /genomic_region: exon; 25
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080; GI:4585698; SPINK5C: 420..421
Feature /codon: tat -> tga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 126
Feature /change: Y -> X
Feature /domain: KAZ2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 57019
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 25
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080; GI:4585698; SPINK5C: 2411
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 790
Feature /change: R -> X
Feature /domain: KAZ12
Symptoms focal (occasionally erythroderma) on non-palm/sole region,
Symptoms no lesion on palms/soles, lichenification (joints), slight
Symptoms pain/irritation in denuded skin, occasionally frequent skin
Symptoms infection, food allergy
Sex XY
Ethnic origin Mongoloid; Japan
Comment improved with age
//
ID Y126X(5),#E825X826(1); standard; MUTATION; KAZ2,KAZ12
Accession S0083
Systematic name Allele 1: g.23455_23456delAT, c.377_378delAT,
Systematic name r.377_378delau, p.Tyr126X
Systematic name Allele 2: g.57282_57283delGA, c.2473_2474delGA,
Systematic name r.2473_2474delga, p.Glu825fsX2
Original code P.5
Description Allele 1: A deletion mutation in the exon 5 leading to a
Description premature stop codon in the KAZ2 domain
Description Allele 2: A frame shift deletion mutation in the exon 26
Description leading to a premature stop codon in the KAZ12 domain
Date 27-Jul-2010 (Rel. 1, Created)
Date 27-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19683336
RefAuthors Renner, E. D., Hartl, D., Rylaarsdam, S., Young, M. L.,
RefAuthors Monaco-Shawver, L., Kleiner, G., Markert, M. L., Stiehm,
RefAuthors E. R., Belohradsky, B. H., Upton, M. P., Torgerson, T. R.,
RefAuthors Orange, J. S., Ochs, H. D.
RefTitle Comèl-netherton syndrome defined as primary
RefTitle immunodeficiency.
RefLoc J Allergy Clin Immunol:536-543 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 23455..23456
Feature /change: -at
Feature /genomic_region: exon; 26
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080; GI:4585698; SPINK5C: 420..421
Feature /codon: tat -> tga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 126
Feature /change: Y -> X
Feature /domain: KAZ2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 57282..57283
Feature /change: -ga
Feature /genomic_region: exon; 26
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080; GI:4585698; SPINK5C: 2516..2517
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 825
Feature /change: E -> GX
Feature /domain: KAZ12
Symptoms Congenital ichthyosis; Bamboo hair; Food allergy; Eczema;
Symptoms Recurrent skin, GIT and respiratory tract infections;
Symptoms Sepsis; Failure to thrive;
Age 2.5
Sex XY
//
ID @A131X136(1),@A131X136(1); standard; MUTATION; KAZ2,KAZ2
Accession S0019
Systematic name Allele 1 and 2: g.23469_23470insCGTG, c.391_392insCGTG,
Systematic name r.391_392inscgug, p.Leu132fsX5
Original code Family 6
Description Allele 1 and 2: a frame shift insertion mutation in the
Description exon 5 leading to a premature stop codon in the KAZ2
Description domain
Date 09-Mar-2004 (Rel. 1, Created)
Date 09-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11511292
RefAuthors Sprecher, E., Chavanas, S., DiGiovanna, J. J., Amin, S.,
RefAuthors Nielsen, K., Prendiville, J. S., Silverman, R., Esterly,
RefAuthors N. B., Spraker, M. K., Guelig, E., de Luna, M. L.,
RefAuthors Williams, M. L., Buehler, B., Siegfried, E. C., Van
RefAuthors Maldergem, L., Pfendner, E., Bale, S. J., Uitto, J.,
RefAuthors Hovnanian, A., Richard, G.
RefTitle The spectrum of pathogenic mutations in SPINK5 in 19
RefTitle families with netherton syndrome: implications for
RefTitle mutation detection and first case of prenatal diagnosis.
RefLoc J Invest Dermatol 117:179-187 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0080: 23470
Feature /change: +cgtg
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 435
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 131
Feature /change: A -> ACTVCX
Feature /domain: KAZ2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0080: 23470
Feature /change: +cgtg
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 435
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 131
Feature /change: A -> ACTVCX
Feature /domain: KAZ2
Ethnic origin Dominican Republik
//
ID @A131X136(2a),@A131X136(2a); standard; MUTATION; KAZ2,KAZ2
Accession S0022
Systematic name Allele 1 and 2: g.23467_23470dup, c.389_392dup,
Systematic name r.389_392dup, p.Leu132fsX5
Original code Family 9
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 5 leading to a premature stop codon in the KAZ2
Description domain
Date 09-Mar-2004 (Rel. 1, Created)
Date 09-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11511292
RefAuthors Sprecher, E., Chavanas, S., DiGiovanna, J. J., Amin, S.,
RefAuthors Nielsen, K., Prendiville, J. S., Silverman, R., Esterly,
RefAuthors N. B., Spraker, M. K., Guelig, E., de Luna, M. L.,
RefAuthors Williams, M. L., Buehler, B., Siegfried, E. C., Van
RefAuthors Maldergem, L., Pfendner, E., Bale, S. J., Uitto, J.,
RefAuthors Hovnanian, A., Richard, G.
RefTitle The spectrum of pathogenic mutations in SPINK5 in 19
RefTitle families with netherton syndrome: implications for
RefTitle mutation detection and first case of prenatal diagnosis.
RefLoc J Invest Dermatol 117:179-187 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 23471
Feature /change: +gtgc
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 436
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 131
Feature /change: A -> ACTVCX
Feature /domain: KAZ2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 23471
Feature /change: +gtgc
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 436
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 131
Feature /change: A -> ACTVCX
Feature /domain: KAZ2
Ethnic origin African-American
Relative SPINK5base; S0023
//
ID @A131X136(2b),@A131X136(2b); standard; MUTATION; KAZ2,KAZ2
Accession S0023
Systematic name Allele 1 and 2: g.23467_23470dup, c.389_392dup,
Systematic name r.389_392dup, p.Leu132fsX5
Original code Family 9
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 5 leading to a premature stop codon in the KAZ2
Description domain
Date 09-Mar-2004 (Rel. 1, Created)
Date 09-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11511292
RefAuthors Sprecher, E., Chavanas, S., DiGiovanna, J. J., Amin, S.,
RefAuthors Nielsen, K., Prendiville, J. S., Silverman, R., Esterly,
RefAuthors N. B., Spraker, M. K., Guelig, E., de Luna, M. L.,
RefAuthors Williams, M. L., Buehler, B., Siegfried, E. C., Van
RefAuthors Maldergem, L., Pfendner, E., Bale, S. J., Uitto, J.,
RefAuthors Hovnanian, A., Richard, G.
RefTitle The spectrum of pathogenic mutations in SPINK5 in 19
RefTitle families with netherton syndrome: implications for
RefTitle mutation detection and first case of prenatal diagnosis.
RefLoc J Invest Dermatol 117:179-187 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 23471
Feature /change: +gtgc
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 436
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 131
Feature /change: A -> ACTVCX
Feature /domain: KAZ2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 23471
Feature /change: +gtgc
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 436
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 131
Feature /change: A -> ACTVCX
Feature /domain: KAZ2
Ethnic origin African-American
Relative SPINK5base; S0022
//
ID #C133X134(1a),R790X(4a); standard; MUTATION; KAZ2,KAZ12
Accession S0057
Systematic name Allele 1: g.23477_23478delTG, c.399_400delTG,
Systematic name r.399_400delug, p.Ala134fsX1
Systematic name Allele 2: g.57019C>T, c.2368C>T, r.2368c>u, p.Arg790X
Original code Patient 3.1
Description Allele 1: a frame shift deletion mutation in the exon 5
Description leading to a premature stop codon in the KAZ2 domain
Description Allele 2: a point mutation in the exon 25 leading to a
Description premature stop codon in the KAZ12 domain
Date 21-Dec-2004 (Rel. 1, Created)
Date 21-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15304086
RefAuthors Raghunath, M., Tontsidou, L., Oji, V., Aufenvenne, K.,
RefAuthors Schurmeyer-Horst, F., Jayakumar, A., Stander, H., Smolle,
RefAuthors J., Clayman, G. L., Traupe, H.
RefTitle SPINK5 and netherton syndrome: novel mutations,
RefTitle demonstration of missing LEKTI, and differential
RefTitle expression of transglutaminases.
RefLoc J Invest Dermatol 123:474-483 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 23477..23478
Feature /change: -tg
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 442..443
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 133..134
Feature /change: CA -> CX
Feature /domain: KAZ2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 57019
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 25
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 2411
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 790
Feature /change: R -> X
Feature /domain: KAZ12
Sex XX
Relative SPINK5base; S0058 sister
//
ID #C133X134(1b),R790X(4b); standard; MUTATION; KAZ2,KAZ12
Accession S0058
Systematic name Allele 1: g.23477_23478delTG, c.399_400delTG,
Systematic name r.399_400delug, p.Ala134fsX1
Systematic name Allele 2: g.57019C>T, c.2368C>T, r.2368c>u, p.Arg790X
Original code Patient 3.2
Description Allele 1: a frame shift deletion mutation in the exon 5
Description leading to a premature stop codon in the KAZ2 domain
Description Allele 2: a point mutation in the exon 25 leading to a
Description premature stop codon in the KAZ12 domain
Date 21-Dec-2004 (Rel. 1, Created)
Date 21-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15304086
RefAuthors Raghunath, M., Tontsidou, L., Oji, V., Aufenvenne, K.,
RefAuthors Schurmeyer-Horst, F., Jayakumar, A., Stander, H., Smolle,
RefAuthors J., Clayman, G. L., Traupe, H.
RefTitle SPINK5 and netherton syndrome: novel mutations,
RefTitle demonstration of missing LEKTI, and differential
RefTitle expression of transglutaminases.
RefLoc J Invest Dermatol 123:474-483 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 23477..23478
Feature /change: -tg
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 442..443
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 133..134
Feature /change: CA -> CX
Feature /domain: KAZ2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 57019
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 25
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 2411
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 790
Feature /change: R -> X
Feature /domain: KAZ12
Sex XX
Relative SPINK5base; S0057 sister
//
ID #C194X198(1a),#C194X198(1a); standard; MUTATION; KAZ3,KAZ3
Accession S0067
Systematic name Allele 1 and 2: g.26556_26557delGT, c.581_582delGT,
Systematic name r.581_582delgu, p.Ala195fsX4
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 7 leading to a premature stop codon in the KAZ3 domain
Date 25-Aug-2006 (Rel. 1, Created)
Date 25-Aug-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16670861
RefAuthors Kilic, G., Guler, N., Ones, U., Tamay, Z., Guzel, P.
RefTitle Netherton syndrome: report of identical twins presenting
RefTitle with severe atopic dermatitis.
RefLoc Eur J Pediatr 165:594-7 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 26556..26557
Feature /change: -gt
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 624..625
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 194
Feature /change: C -> CNVCX
Feature /domain: KAZ3
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 26556..26557
Feature /change: -gt
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 624..625
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 194
Feature /change: C -> CNVCX
Feature /domain: KAZ3
Symptoms Typical hair shaft defect characteristic by TI, extremely
Symptoms high total IgE and food allergies as atopic features and
Symptoms ichthyosiform erythroderma with eczema resistant to atopic
Symptoms dermatitis therapy
Sex XX
Parents Non-consanguineous
Relative SPINK5base; S0068 twin sister
//
ID #C194X198(1b),#C194X198(1b); standard; MUTATION; KAZ3,KAZ3
Accession S0068
Systematic name Allele 1 and 2: g.26556_26557delGT, c.581_582delGT,
Systematic name r.581_582delgu, p.Ala195fsX4
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 7 leading to a premature stop codon in the KAZ3 domain
Date 25-Aug-2006 (Rel. 1, Created)
Date 25-Aug-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16670861
RefAuthors Kilic, G., Guler, N., Ones, U., Tamay, Z., Guzel, P.
RefTitle Netherton syndrome: report of identical twins presenting
RefTitle with severe atopic dermatitis.
RefLoc Eur J Pediatr 165:594-7 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 26556..26557
Feature /change: -gt
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 624..625
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 194
Feature /change: C -> CNVCX
Feature /domain: KAZ3
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 26556..26557
Feature /change: -gt
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 624..625
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 194
Feature /change: C -> CNVCX
Feature /domain: KAZ3
Symptoms Typical hair shaft defect characteristic by TI, extremely
Symptoms high total IgE and food allergies as atopic features and
Symptoms ichthyosiform erythroderma with eczema resistant to atopic
Symptoms dermatitis therapy
Sex XX
Parents Non-consanguineous
Relative SPINK5base; S0067 twin sister
//
ID R210X(1a),R210X(1a); standard; MUTATION; KAZ3,KAZ3
Accession S0040
Systematic name Allele 1 and 2: g.28146C>T, c.628C>T, r.628c>u, p.Arg210X
Original code Patient 13.1
Description Allele 1 and 2: a point mutation in the exon 8 leading to
Description a premature stop codon in the KAZ3 domain
Date 12-Mar-2004 (Rel. 1, Created)
Date 12-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841556
RefAuthors Bitoun, E., Chavanas, S., Irvine, A. D., Lonie, L.,
RefAuthors Bodemer, C., Paradisi, M., Hamel-Teillac, D., Ansai, S.,
RefAuthors Mitsuhashi, Y., Taxeb, A., de Prost, Y., Zambruno, G.,
RefAuthors Harper, J. I., Hovnanian, A.
RefTitle Netherton syndrome: disease expression and spectrum of
RefTitle SPINK5 mutations in 21 families.
RefLoc J Invest Dermatol 118:352-361 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 28146
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 671
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 210
Feature /change: R -> X
Feature /domain: KAZ3
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 28146
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 671
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 210
Feature /change: R -> X
Feature /domain: KAZ3
Symptoms Trichorrhexis invaginata, ichtyosis linearis circumflexa,
Symptoms excema-like rashes, hyper immunoglobulin E, persistent
Symptoms pruritus
Ethnic origin Mongoloid; Pakistan
Parents Consanguineous
Relative SPINK5base; S0041 sibling
//
ID R210X(1b),R210X(1b); standard; MUTATION; KAZ3,KAZ3
Accession S0041
Systematic name Allele 1 and 2: g.28146C>T, c.628C>T, r.628c>u, p.Arg210X
Original code Patient 13.2
Description Allele 1 and 2: a point mutation in the exon 8 leading to
Description a premature stop codon in the KAZ3 domain
Date 12-Mar-2004 (Rel. 1, Created)
Date 12-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841556
RefAuthors Bitoun, E., Chavanas, S., Irvine, A. D., Lonie, L.,
RefAuthors Bodemer, C., Paradisi, M., Hamel-Teillac, D., Ansai, S.,
RefAuthors Mitsuhashi, Y., Taxeb, A., de Prost, Y., Zambruno, G.,
RefAuthors Harper, J. I., Hovnanian, A.
RefTitle Netherton syndrome: disease expression and spectrum of
RefTitle SPINK5 mutations in 21 families.
RefLoc J Invest Dermatol 118:352-361 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 28146
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 671
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 210
Feature /change: R -> X
Feature /domain: KAZ3
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 28146
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 671
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 210
Feature /change: R -> X
Feature /domain: KAZ3
Symptoms Scaly erythroderma at birth, trichorrhexis invaginata,
Symptoms ichtyosis linearis circumflexa, excema-like rashes, hyper
Symptoms immunoglobulin E, hay fever, asthma, failure to thrive,
Symptoms persistent pruritus, growth retardation
Ethnic origin Mongoloid; Pakistan
Parents Consanguineous
Relative SPINK5base; S0040 sibling
//
ID R217X(2),#Q231X232(1); standard; MUTATION; ,KAZ4
Accession S0064
Systematic name Allele 1: g.28167C>T, c.649C>T, r.649c>u, p.Arg217X
Systematic name Allele 2: g.31334delC, c.691delC, r.691delc, p.Gln231fsX2
Original code 26-year-old patient
Description Allele 1: a point mutation in the exon 8 leading to a
Description premature stop codon
Description Allele 2: a frame shift deletion in the exon 9 leading to a
Description premature stop codon in the KAZ4 domain
Date 10-Oct-2005 (Rel. 1, Created)
Date 10-Oct-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15347338
RefAuthors Sprecher, E., Tesfaye-Kedjela, A., Ratajczak, P., Bergman,
RefAuthors R., Richard, G.
RefTitle Deleterious mutations in SPINK5 in a patient with
RefTitle congenital ichthyosiform erythroderma: molecular testing
RefTitle as a helpful diagnostic tool for netherton syndrome.
RefLoc Clin Exp Dermatol 29:513-517 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 28167
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 692
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 217
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 31334
Feature /change: -c
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 734
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 231
Feature /change: Q -> KX
Feature /domain: KAZ4
Symptoms Severe, life-long, persistent erythroderma and generalized
Symptoms scaling, recurrent episodes of skin, CIE, respiratory tract
Symptoms and systemic infections culminating repeatedly in
Symptoms life-threatening sepsis, multiple food allergies
Sex XY
Ethnic origin Jewish Ashcenazi
Parents Non-consanguineous
//
ID R218X(1),Intron 23(1); standard; MUTATION;
Accession S0024
Systematic name Allele 1: g.28170C>T, c.652C>T, r.652c>u, p.Arg218X
Systematic name Allele 2: g.IVS23+1G>A, c.2240+1G>A, r.2240+1g>a,
Original code Family 11
Description Allele 1: a point mutation in the exon 8 leading to a
Description premature stop codon
Description Allele 2: a point mutation in the intron 23 leading to
Description aberrant splicing
Date 09-Mar-2004 (Rel. 1, Created)
Date 09-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11511292
RefAuthors Sprecher, E., Chavanas, S., DiGiovanna, J. J., Amin, S.,
RefAuthors Nielsen, K., Prendiville, J. S., Silverman, R., Esterly,
RefAuthors N. B., Spraker, M. K., Guelig, E., de Luna, M. L.,
RefAuthors Williams, M. L., Buehler, B., Siegfried, E. C., Van
RefAuthors Maldergem, L., Pfendner, E., Bale, S. J., Uitto, J.,
RefAuthors Hovnanian, A., Richard, G.
RefTitle The spectrum of pathogenic mutations in SPINK5 in 19
RefTitle families with netherton syndrome: implications for
RefTitle mutation detection and first case of prenatal diagnosis.
RefLoc J Invest Dermatol 117:179-187 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 28170
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 695
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 218
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 55521
Feature /change: g -> a
Feature /genomic_region: intron; 23
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Ethnic origin Italian/Finnish
//
ID @C239X244(1),@C239X244(1); standard; MUTATION; KAZ4,KAZ4
Accession S0054
Systematic name Allele 1 and 2: g.31358dupT, c.715dupT, r.715dupu,
Systematic name p.Cys239fsX6
Original code Patient 1
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 9 leading to a premature stop codon in the KAZ4
Description domain
Date 20-Dec-2004 (Rel. 1, Created)
Date 20-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15304086
RefAuthors Raghunath, M., Tontsidou, L., Oji, V., Aufenvenne, K.,
RefAuthors Schurmeyer-Horst, F., Jayakumar, A., Stander, H., Smolle,
RefAuthors J., Clayman, G. L., Traupe, H.
RefTitle SPINK5 and netherton syndrome: novel mutations,
RefTitle demonstration of missing LEKTI, and differential
RefTitle expression of transglutaminases.
RefLoc J Invest Dermatol 123:474-483 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 31359
Feature /change: +t
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 759
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 239
Feature /change: C -> LYTGEX
Feature /domain: KAZ4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 31359
Feature /change: +t
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 759
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 239
Feature /change: C -> LYTGEX
Feature /domain: KAZ4
Parents Consanguineous
//
ID @R241X244(1),@R241X244(1); standard; MUTATION; KAZ4,KAZ4
Accession S0006
Systematic name Allele 1 and 2: g.31363_31364insT, c.720_721insT,
Systematic name r.720_721insu, p.Arg241fsX4
Original code Family 6
Description Allele 1 and 2: a frame shift insertion mutation in the
Description exon 9 leading to a premature stop codon in the KAZ4
Description domain
Date 05-Mar-2004 (Rel. 1, Created)
Date 05-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10835624
RefAuthors Chavanas, S., Bodemer, C., Rochat, A., Hamel-Teillac, D.,
RefAuthors Ali, M., Irvine, A. D., Bonafe, J. L., Wilkinson, J.,
RefAuthors Taxeb, A., Barrandon, Y., Harper, J. I., de Prost, Y.,
RefAuthors Hovnanian, A.
RefTitle Mutations in SPINK5, encoding a serine protease
RefTitle inhibitor, cause netherton syndrome.
RefLoc Nat Genet 25:141-142 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0080: 31364
Feature /change: +t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 764
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 241
Feature /change: R -> SGEX
Feature /domain: KAZ4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0080: 31364
Feature /change: +t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 764
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 241
Feature /change: R -> SGEX
Feature /domain: KAZ4
//
ID R267Q(1),R267Q(1); standard; MUTATION; KAZ4,KAZ4
Accession S0071
Systematic name Allele 1 and 2: g.32779G>A, c.800G>A, r.800g>a, p.Arg267Gln
Original code Patient 2
Description Allele 1 and 2: A point mutation in the exon 10 leading to
Description an amino acid change in the KAZ4 domain
Date 03-Jun-2008 (Rel. 1, Created)
Date 03-Jun-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17415575
RefAuthors Lin, S. P., Huang, S. Y., Tu, M. E., Wu, Y. H., Lin, C.
RefAuthors Y., Lin, H. Y., Lee-Chen, G. J.
RefTitle Netherton syndrome: mutation analysis of two taiwanese
RefTitle families.
RefLoc Arch Dermatol Res:145-150 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 32779
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0080; GI:4585698; SPINK5C: 843
Feature /codon: cgg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 267
Feature /change: R -> Q
Feature /domain: KAZ4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 32779
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0080; GI:4585698; SPINK5C: 843
Feature /codon: cgg -> cag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 267
Feature /change: R -> Q
Feature /domain: KAZ4
Symptoms growth retardation, dyspepsia, generalized severe
Symptoms erythroderma with psoriasiform dermatitis and
Symptoms lichenification, eosinophilia and fluctuated IgE levels
Sex XX
Ethnic origin Mongoloid; Taiwan
Parents Non-consanguineous
//
ID @K346X376(1),R371X(1); standard; MUTATION; KAZ5,KAZ6
Accession S0028
Systematic name Allele 1: g.36211_36215dup, c.1032_1036dup,
Systematic name r.1032_1036dup, p.Lys346fsX31
Systematic name Allele 2: g.37428C>T, c.1111C>T, r.1111c>u, p.Arg371X
Original code Patient 1
Description Allele 1: a frame shift duplication mutation in the exon
Description 12 leading to a premature stop codon in the KAZ5 domain
Description Allele 2: a point mutation in the exon 13 leading to a
Description premature stop codon in the KAZ6 domain
Date 12-Mar-2004 (Rel. 1, Created)
Date 12-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841556
RefAuthors Bitoun, E., Chavanas, S., Irvine, A. D., Lonie, L.,
RefAuthors Bodemer, C., Paradisi, M., Hamel-Teillac, D., Ansai, S.,
RefAuthors Mitsuhashi, Y., Taxeb, A., de Prost, Y., Zambruno, G.,
RefAuthors Harper, J. I., Hovnanian, A.
RefTitle Netherton syndrome: disease expression and spectrum of
RefTitle SPINK5 mutations in 21 families.
RefLoc J Invest Dermatol 118:352-361 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 36216
Feature /change: +gaaaa
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 1080
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 346
Feature /change: K -> RKRLKHELET KENLEKQPHM QSFAMNIESL X
Feature /domain: KAZ5
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 37428
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 1154
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 371
Feature /change: R -> X
Feature /domain: KAZ6
Symptoms Scaly erythroderma at birth, trichorrhexis invaginata,
Symptoms ichtyosis linearis circumflexa, excema-like rashes,
Symptoms angio-edema, hyper immunoglobulin E, failure to thrive,
Symptoms recurrent infections, hypernatremic dehydration, growth
Symptoms retardation, enteropathy
Ethnic origin Caucasoid; England
//
ID R350X(1),R350X(1); standard; MUTATION; KAZ5,KAZ5
Accession S0078
Systematic name Allele 1 and 2: g.36227C>T, c.1048C>T, r.1048c>u, p.Arg350X
Description Allele 1 and 2: A point mutation in the exon 12 leading to
Description a premature stop codon in the KAZ5 domain
Date 27-Jul-2010 (Rel. 1, Created)
Date 27-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18577046
RefAuthors Macknet, C. A., Morkos, A., Job, L., Garberoglio, M. C.,
RefAuthors Clark, R. D., Macknet, K. D., Peverini, R. L.
RefTitle An infant with netherton syndrome and persistent pulmonary
RefTitle hypertension requiring extracorporeal membrane
RefTitle oxygenation.
RefLoc Pediatr Dermatol:368-372 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 36227
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080; GI:4585698; SPINK5C: 1091
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 350
Feature /change: R -> X
Feature /domain: KAZ5
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 36227
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080; GI:4585698; SPINK5C: 1091
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 350
Feature /change: R -> X
Feature /domain: KAZ5
Symptoms Respiratory distress; Pulmonary hypertension;
Sex XX
Parents Consanguineous
//
ID #S362X368(1),#S362X368(1); standard; MUTATION;
Accession S0007
Systematic name Allele 1 and 2: g.36265_36266delAT, c.1086_1087delAT,
Systematic name r.1086_1087delau, p.Tyr363fsX6
Original code Family 7
Description Allele 1 and 2: a frame shift deletion mutation in the
Description exon 12 leading to a premature stop codon
Date 05-Mar-2004 (Rel. 1, Created)
Date 05-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10835624
RefAuthors Chavanas, S., Bodemer, C., Rochat, A., Hamel-Teillac, D.,
RefAuthors Ali, M., Irvine, A. D., Bonafe, J. L., Wilkinson, J.,
RefAuthors Taxeb, A., Barrandon, Y., Harper, J. I., de Prost, Y.,
RefAuthors Hovnanian, A.
RefTitle Mutations in SPINK5, encoding a serine protease
RefTitle inhibitor, cause netherton syndrome.
RefLoc Nat Genet 25:141-142 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 36265..36266
Feature /change: -at
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 1129..1130
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 362..363
Feature /change: SY -> SCRALQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 36265..36266
Feature /change: -at
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 1129..1130
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 362..363
Feature /change: SY -> SCRALQX
//
ID Intron 2(2),R371X(2); standard; MUTATION; ,KAZ6
Accession S0029
Systematic name Allele 1: g.IVS2+2T>A, c.81+2T>A, r.81+2u>a,
Systematic name Allele 2: g.37428C>T, c.1111C>T, r.1111c>u, p.Arg371X
Original code Patient 2
Description Allele 1: a point mutation in the intron 2 leading to an
Description aberrant splicing
Description Allele 2: a point mutation in the exon 13 leading to a
Description premature stop codon in the KAZ6 domain
Date 12-Mar-2004 (Rel. 1, Created)
Date 12-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841556
RefAuthors Bitoun, E., Chavanas, S., Irvine, A. D., Lonie, L.,
RefAuthors Bodemer, C., Paradisi, M., Hamel-Teillac, D., Ansai, S.,
RefAuthors Mitsuhashi, Y., Taxeb, A., de Prost, Y., Zambruno, G.,
RefAuthors Harper, J. I., Hovnanian, A.
RefTitle Netherton syndrome: disease expression and spectrum of
RefTitle SPINK5 mutations in 21 families.
RefLoc J Invest Dermatol 118:352-361 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 2330
Feature /change: t -> a
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 37428
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 1154
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 371
Feature /change: R -> X
Feature /domain: KAZ6
Symptoms Scaly erythroderma at birth, trichorrhexis invaginata,
Symptoms ichtyosis linearis circumflexa, excema-like rashes,
Symptoms angio-edema, hay fever, hyper immunoglobulin E,
Symptoms urticaria, recurrent infections, persistent pruritus,
Symptoms growth retardation
Ethnic origin Caucasoid; England
//
ID R371X(3),#R681X708(1); standard; MUTATION; KAZ6,KAZ10
Accession S0042
Systematic name Allele 1: g.37428C>T, c.1111C>T, r.1111c>u, p.Arg371X
Systematic name Allele 2: g.53351_53352delAG, c.2041_2042delAG,
Systematic name r.2041_2042delag, p.Arg681fsX28
Original code Patient 11
Description Allele 1: a point mutation in the exon 13 leading to a
Description premature stop codon in the KAZ6 domain
Description Allele 2: a frame shift deletion in the exon 22 leading to
Description a premature stop codon in the KAZ10 domain
Date 12-Mar-2004 (Rel. 1, Created)
Date 12-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841556
RefAuthors Bitoun, E., Chavanas, S., Irvine, A. D., Lonie, L.,
RefAuthors Bodemer, C., Paradisi, M., Hamel-Teillac, D., Ansai, S.,
RefAuthors Mitsuhashi, Y., Taxeb, A., de Prost, Y., Zambruno, G.,
RefAuthors Harper, J. I., Hovnanian, A.
RefTitle Netherton syndrome: disease expression and spectrum of
RefTitle SPINK5 mutations in 21 families.
RefLoc J Invest Dermatol 118:352-361 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 37428
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 1154
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 371
Feature /change: R -> X
Feature /domain: KAZ6
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 53351..53352
Feature /change: -ag
Feature /genomic_region: exon; 22
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 2084..2085
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 681
Feature /change: R -> ERRGRSEKCC RTWFQWWWRR KHSGRMCX
Feature /domain: KAZ10
Symptoms Scaly erythroderma at birth, trichorrhexis invaginata,
Symptoms ichtyosis linearis circumflexa, excema-like rashes, hyper
Symptoms immunoglobulin E, hay fever, asthma, hypereosinophilia,
Symptoms failure to thrive, hypernatremic dehydration, persistent
Symptoms pruritus, growth retardation
Ethnic origin Caucasoid; Italy
//
ID @C451X456(1),@C451X456(1); standard; MUTATION; KAZ7,KAZ7
Accession S0080
Systematic name Allele 1 and 2: g.38785dupT, c.1351dupT, r.1351dupu,
Systematic name p.Cys451fsX6
Original code P.2
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 15 leading to a premature stop codon in the KAZ7
Description domain
Date 27-Jul-2010 (Rel. 1, Created)
Date 27-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19683336
RefAuthors Renner, E. D., Hartl, D., Rylaarsdam, S., Young, M. L.,
RefAuthors Monaco-Shawver, L., Kleiner, G., Markert, M. L., Stiehm,
RefAuthors E. R., Belohradsky, B. H., Upton, M. P., Torgerson, T. R.,
RefAuthors Orange, J. S., Ochs, H. D.
RefTitle Comèl-netherton syndrome defined as primary
RefTitle immunodeficiency.
RefLoc J Allergy Clin Immunol:536-543 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 38786
Feature /change: +t
Feature /genomic_region: exon; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080; GI:4585698; SPINK5C: 1395
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 451
Feature /change: C -> LHQREX
Feature /domain: KAZ7
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 38786
Feature /change: +t
Feature /genomic_region: exon; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080; GI:4585698; SPINK5C: 1395
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 451
Feature /change: C -> LHQREX
Feature /domain: KAZ7
Symptoms Congenital ichthyosis; Eczema; Recurrent skin, GIT and
Symptoms respiratory tract infections; Sepsis; Pneumonia;
Symptoms Failure to thrive;
Age 3
Sex XY
Parents Consanguineous
//
ID G700X(1),Intron 5(1); standard; MUTATION;
Accession S0085
Systematic name Allele 1: g.53408G>T, c.2098G>T, r.2098g>u, p.Gly700X
Systematic name Allele 2: g.23489G>A, c.410+1G>A, r.410+1g>a
Original code P.8
Description Allele 1: A point mutation in the exon 22 leading to
Description a premature stop codon
Description Allele 2: A point mutation in the intron 5 leading to
Description aberrant splicing
Date 27-Jul-2010 (Rel. 1, Created)
Date 27-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19683336
RefAuthors Renner, E. D., Hartl, D., Rylaarsdam, S., Young, M. L.,
RefAuthors Monaco-Shawver, L., Kleiner, G., Markert, M. L., Stiehm,
RefAuthors E. R., Belohradsky, B. H., Upton, M. P., Torgerson, T. R.,
RefAuthors Orange, J. S., Ochs, H. D.
RefTitle Comèl-netherton syndrome defined as primary
RefTitle immunodeficiency.
RefLoc J Allergy Clin Immunol:536-543 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 53408
Feature /change: g -> t
Feature /genomic_region: exon; 22
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080; GI:4585698; SPINK5C: 2141
Feature /codon: gga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 700
Feature /change: G -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 23489
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Congenital ichthyosis; Bamboo hair; Food allergy; Eczema;
Symptoms Recurrent skin infections; Failure to thrive;
Age 1
Sex XX
//
ID Q713X(1a),R790X(6a); standard; MUTATION; KAZ11,KAZ12
Accession S0065
Systematic name Allele 1: g.55417C>T, c.2137C>T, r.2137c>u, p.Gln713X
Systematic name Allele 2: g.57019C>T, c.2368C>T, r.2368c>u, p.Arg790X
Original code Patient A
Description Allele 1: a point mutation in the exon 23 leading to a
Description premature stop codon in the KAZ11 domain
Description Allele 2: a point mutation in the exon 25 leading to a
Description premature stop codon in the KAZ12 domain
Date 11-Jan-2006 (Rel. 1, Created)
Date 11-Jan-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16225619
RefAuthors Shimomura, Y., Sato, N., Kariya, N., Takatsuka, S., Ito,
RefAuthors M.
RefTitle Netherton syndrome in two japanese siblings with a novel
RefTitle mutation in the SPINK5 gene: immunohistochemical studies
RefTitle of LEKTI and other epidermal molecules.
RefLoc Br J Dermatol 153:1026-1030 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 55417
Feature /change: c -> t
Feature /genomic_region: exon; 23
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 2180
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 713
Feature /change: Q -> X
Feature /domain: KAZ11
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 57019
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 25
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 2411
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 790
Feature /change: R -> X
Feature /domain: KAZ12
Symptoms Scaly erythroderma at birth, which gradually developed into
Symptoms ichtyosis linearis circumflexa, hair shafts showed typical
Symptoms trichorrhexis invaginata, serum IgE levels were elevated.
Sex XY
Ethnic origin Mongoloid; Japan
Relative SPINK5base; S0066 brother
//
ID Q713X(1b),R790X(6b); standard; MUTATION; KAZ11,KAZ12
Accession S0066
Systematic name Allele 1: g.55417C>T, c.2137C>T, r.2137c>u, p.Gln713X
Systematic name Allele 2: g.57019C>T, c.2368C>T, r.2368c>u, p.Arg790X
Original code Patient B
Description Allele 1: a point mutation in the exon 23 leading to a
Description premature stop codon in the KAZ11 domain
Description Allele 2: a point mutation in the exon 25 leading to a
Description premature stop codon in the KAZ12 domain
Date 11-Jan-2006 (Rel. 1, Created)
Date 11-Jan-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16225619
RefAuthors Shimomura, Y., Sato, N., Kariya, N., Takatsuka, S., Ito,
RefAuthors M.
RefTitle Netherton syndrome in two japanese siblings with a novel
RefTitle mutation in the SPINK5 gene: immunohistochemical studies
RefTitle of LEKTI and other epidermal molecules.
RefLoc Br J Dermatol 153:1026-1030 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 55417
Feature /change: c -> t
Feature /genomic_region: exon; 23
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 2180
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 713
Feature /change: Q -> X
Feature /domain: KAZ11
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 57019
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 25
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 2411
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 790
Feature /change: R -> X
Feature /domain: KAZ12
Symptoms Ichthyosiform erythroderma with patchy islands of normal
Symptoms skin, his scalp hairs were sparse, but did not show
Symptoms trichorrhexis invaginata.
Sex XY
Ethnic origin Mongoloid; Japan
Relative SPINK5base; S0065 brother
//
ID K754X(1a),K754X(1a); standard; MUTATION; KAZ11,KAZ11
Accession S0061
Systematic name Allele 1 and 2: g.55961A>T, c.2260A>T, r.2260a>u, p.Lys754X
Original code Patient 1
Description Allele 1 and 2: a point mutation in the exon 24 leading to
Description a premature stop codon in the KAZ11 domain
Date 17-May-2005 (Rel. 1, Created)
Date 17-May-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15656819
RefAuthors Chao, S. C., Richard, G., Lee, J. Y.
RefTitle Netherton syndrome: report of two taiwanese siblings with
RefTitle staphylococcal scalded skin syndrome and mutation of
RefTitle SPINK5.
RefLoc Br J Dermatol 152:159-165 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 55961
Feature /change: a -> t
Feature /genomic_region: exon; 24
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 2303
Feature /codon: aaa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 754
Feature /change: K -> X
Feature /domain: KAZ11
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 55961
Feature /change: a -> t
Feature /genomic_region: exon; 24
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 2303
Feature /codon: aaa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 754
Feature /change: K -> X
Feature /domain: KAZ11
Symptoms Exfoliative erythroderma since birth, pneumonia,
Symptoms bronchopneumonia, sinusitis, conjunctivitis, otitis,
Symptoms impetigo, bright erythematous swelling of the face,
Symptoms staphylococcal scalded skin syndrome
Sex XY
Ethnic origin Mongoloid; Taiwan
Parents Non-consanguineous
Relative SPINK5base; S0062 brother
//
ID K754X(1b),K754X(1b); standard; MUTATION; KAZ11,KAZ11
Accession S0062
Systematic name Allele 1 and 2: g.55961A>T, c.2260A>T, r.2260a>u, p.Lys754X
Original code Patient 2
Description Allele 1 and 2: a point mutation in the exon 24 leading to
Description a premature stop codon in the KAZ11 domain
Date 17-May-2005 (Rel. 1, Created)
Date 17-May-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15656819
RefAuthors Chao, S. C., Richard, G., Lee, J. Y.
RefTitle Netherton syndrome: report of two taiwanese siblings with
RefTitle staphylococcal scalded skin syndrome and mutation of
RefTitle SPINK5.
RefLoc Br J Dermatol 152:159-165 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 55961
Feature /change: a -> t
Feature /genomic_region: exon; 24
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 2303
Feature /codon: aaa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 754
Feature /change: K -> X
Feature /domain: KAZ11
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 55961
Feature /change: a -> t
Feature /genomic_region: exon; 24
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 2303
Feature /codon: aaa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 754
Feature /change: K -> X
Feature /domain: KAZ11
Symptoms Generalized erythroderma and diffuse scaling, dyspnoea and
Symptoms skin desquamation shortly after birth, interstitial
Symptoms pneumonitis and oxacillin-resistant staphylococcal sepsis,
Symptoms staphylococcal scalded skin syndrome
Sex XY
Ethnic origin Mongoloid; Taiwan
Parents Non-consanguineous
Relative SPINK5base; S0061 brother
//
ID @N755X756(2),R790X(2); standard; MUTATION; KAZ11,KAZ12
Accession S0032
Systematic name Allele 1: g.55964dupA, c.2263dupA, r.2263dupa,
Systematic name p.Asn755fsX2
Systematic name Allele 2: g.57019C>T, c.2368C>T, r.2368c>u, p.Arg790X
Original code Patient 5
Description Allele 1: a frame shift duplication mutation in the exon
Description 24 leading to a premature stop codon in the KAZ11 domain
Description Allele 2: a point mutation in the exon 25 leading to a
Description premature stop codon in the KAZ12 domain
Date 12-Mar-2004 (Rel. 1, Created)
Date 12-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841556
RefAuthors Bitoun, E., Chavanas, S., Irvine, A. D., Lonie, L.,
RefAuthors Bodemer, C., Paradisi, M., Hamel-Teillac, D., Ansai, S.,
RefAuthors Mitsuhashi, Y., Taxeb, A., de Prost, Y., Zambruno, G.,
RefAuthors Harper, J. I., Hovnanian, A.
RefTitle Netherton syndrome: disease expression and spectrum of
RefTitle SPINK5 mutations in 21 families.
RefLoc J Invest Dermatol 118:352-361 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 55965
Feature /change: +a
Feature /genomic_region: exon; 24
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 2307
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 755
Feature /change: N -> KX
Feature /domain: KAZ11
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 57019
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 25
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 2411
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 790
Feature /change: R -> X
Feature /domain: KAZ12
Symptoms Scaly erythroderma at birth, trichorrhexis invaginata,
Symptoms ichtyosis linearis circumflexa, hyper immunoglobulin E,
Symptoms urticaria, failure to thrive, recurrent infections,
Symptoms persistent pruritus
Ethnic origin Caucasoid; England
//
ID Intron 13(1),R790X(5); standard; MUTATION; ,KAZ12
Accession S0063
Systematic name Allele 1: g.IVS13+1G>C, c.1220+1G>C, r.1220+1g>c,
Systematic name Allele 2: g.57019C>T, c.2368C>T, r.2368c>u, p.Arg790X
Original code 6-month-old Japanese boy
Description Allele 1: a point mutation in the intron 13 leading to
Description aberrant splicing
Description Allele 2: a point mutation in the exon 25 leading to a
Description premature stop codon in the KAZ12 domain
Date 19-Sep-2005 (Rel. 1, Created)
Date 19-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16120162
RefAuthors Mizuno, Y., Suga, Y., Muramatsu, S., Hasegawa, T.,
RefAuthors Shimizu, T., Ogawa, H.
RefTitle A japanese infant with localized ichthyosis linearis
RefTitle circumflexa on the palms and soles harbouring a compound
RefTitle heterozygous mutation in the SPINK5 gene.
RefLoc Br J Dermatol 153:661-663 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 37538
Feature /change: g -> c
Feature /genomic_region: intron; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 57019
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 25
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 2411
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 790
Feature /change: R -> X
Feature /domain: KAZ12
Sex XY
Ethnic origin Mongoloid; Japan
Parents Non-consanguineous
//
ID R790X(7),T808I(1); standard; MUTATION; KAZ12,KAZ12
Accession S0070
Systematic name Allele 1: g.57019C>T, c.2368C>T, r.2368c>u, p.Arg790X
Systematic name Allele 2: g.57074C>T, c.2423C>T, r.2423c>u, p.Thr808Ile
Original code Patient 1
Description Allele 1: A point mutation in the exon 25 leading to a
Description premature stop codon in the KAZ12 domain
Description Allele 2: A point mutation in the exon 25 leading to an
Description amino acid change in the KAZ12 domain
Date 03-Jun-2008 (Rel. 1, Created)
Date 03-Jun-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17415575
RefAuthors Lin, S. P., Huang, S. Y., Tu, M. E., Wu, Y. H., Lin, C.
RefAuthors Y., Lin, H. Y., Lee-Chen, G. J.
RefTitle Netherton syndrome: mutation analysis of two taiwanese
RefTitle families.
RefLoc Arch Dermatol Res:145-150 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 57019
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 25
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080; GI:4585698; SPINK5C: 2411
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 790
Feature /change: R -> X
Feature /domain: KAZ12
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 57074
Feature /change: c -> t
Feature /genomic_region: exon; 25
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0080; GI:4585698; SPINK5C: 2466
Feature /codon: act -> att; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 808
Feature /change: T -> I
Feature /domain: KAZ12
Symptoms ichthyosis linearis circumflexa, typical trichorrhexis
Symptoms invaginata, seborrhea capitis, repeated episodes of
Symptoms suppurative otitis media, eosinophilia, elevated serum IgE
Symptoms level
Sex XX
Ethnic origin Mongoloid; Taiwan
Parents Non-consanguineous
//
ID R790X(8),R790X(8); standard; MUTATION; KAZ12,KAZ12
Accession S0073
Systematic name Allele 1 and 2: g.57019C>T, c.2368C>T, r.2368c>u, p.Arg790X
Original code Patient in family B (Ref1), Patient E (Ref2)
Description Allele 1 and 2: A point mutation in the exon 25 leading to
Description a premature stop codon in the KAZ12 domain
Date 04-Jun-2008 (Rel. 1, Created)
Date 04-Jun-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11874482
RefAuthors Komatsu, N., Takata, M., Otsuki, N., Ohka, R., Amano, O.,
RefAuthors Takehara, K., Saijoh, K.
RefTitle Elevated stratum corneum hydrolytic activity in netherton
RefTitle syndrome suggests an inhibitory regulation of desquamation
RefTitle by SPINK5-derived peptides.
RefLoc J Invest Dermatol:436-443 (2002)
RefNumber [2]
RefCrossRef PUBMED; 17989726
RefAuthors Komatsu, N., Saijoh, K., Jayakumar, A., Clayman, G. L.,
RefAuthors Tohyama, M., Suga, Y., Mizuno, Y., Tsukamoto, K.,
RefAuthors Taniuchi, K., Takehara, K., Diamandis, E. P.
RefTitle Correlation between SPINK5 gene mutations and clinical
RefTitle manifestations in netherton syndrome patients.
RefLoc J Invest Dermatol:1148-1159 (2008)
Reference
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 57019
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 25
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080; GI:4585698; SPINK5C: 2411
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 790
Feature /change: R -> X
Feature /domain: KAZ12
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 57019
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 25
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080; GI:4585698; SPINK5C: 2411
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 790
Feature /change: R -> X
Feature /domain: KAZ12
Symptoms trichorrhexis invaginata, eosinophilia, raised serum IgE
Symptoms levels, mild cutaneous phenotype with patchy islands of
Symptoms normal skin and readily recognized ichthyosis linearis
Symptoms circumflexa
Sex XY
Ethnic origin Mongoloid; Japan
Comment improved with age
//
ID #K823X923(1),?; standard; MUTATION; KAZ12
Accession S0030
Systematic name Allele 1: g.57277delA, c.2468delA, r.2468dela,
Systematic name p.Lys823fsX101
Original code Patient 3
Description Allele 1: a frame shift deletion mutation in the exon 26
Description leading to a premature stop codon in the KAZ12 domain
Date 12-Mar-2004 (Rel. 1, Created)
Date 12-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841556
RefAuthors Bitoun, E., Chavanas, S., Irvine, A. D., Lonie, L.,
RefAuthors Bodemer, C., Paradisi, M., Hamel-Teillac, D., Ansai, S.,
RefAuthors Mitsuhashi, Y., Taxeb, A., de Prost, Y., Zambruno, G.,
RefAuthors Harper, J. I., Hovnanian, A.
RefTitle Netherton syndrome: disease expression and spectrum of
RefTitle SPINK5 mutations in 21 families.
RefLoc J Invest Dermatol 118:352-361 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 57277
Feature /change: -a
Feature /genomic_region: exon; 26
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 2511
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 823
Feature /change: K ->
Feature /change: RKRMKTGAIQ EKGAIQEKGA MTKRICVVNF EACREMESLS
Feature /change: APEKITLFEA HMARCTSINV LCVRASLIEK LMKEKRKMKR
Feature /change: NQVASPQIMQ RMSAVNFETI X
Feature /domain: KAZ12
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Scaly erythroderma at birth, trichorrhexis invaginata,
Symptoms ichtyosis linearis circumflexa, excema-like rashes, hay
Symptoms fever, hyper immunoglobulin E, urticaria, failure to
Symptoms thrive, recurrent infections, growth retardation
Ethnic origin Caucasoid; North Ireland
//
ID #K823X923(2),?; standard; MUTATION; KAZ12
Accession S0031
Systematic name Allele 1: g.57277delA, c.2468delA, r.2468dela,
Systematic name p.Lys823fsX101
Original code Patient 4
Description Allele 1: a frame shift deletion mutation in the exon 26
Description leading to a premature stop codon in the KAZ12 domain
Date 12-Mar-2004 (Rel. 1, Created)
Date 12-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841556
RefAuthors Bitoun, E., Chavanas, S., Irvine, A. D., Lonie, L.,
RefAuthors Bodemer, C., Paradisi, M., Hamel-Teillac, D., Ansai, S.,
RefAuthors Mitsuhashi, Y., Taxeb, A., de Prost, Y., Zambruno, G.,
RefAuthors Harper, J. I., Hovnanian, A.
RefTitle Netherton syndrome: disease expression and spectrum of
RefTitle SPINK5 mutations in 21 families.
RefLoc J Invest Dermatol 118:352-361 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 57277
Feature /change: -a
Feature /genomic_region: exon; 26
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 2511
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 823
Feature /change: K ->
Feature /change: RKRMKTGAIQ EKGAIQEKGA MTKRICVVNF EACREMESLS
Feature /change: APEKITLFEA HMARCTSINV LCVRASLIEK LMKEKRKMKR
Feature /change: NQVASPQIMQ RMSAVNFETI X
Feature /domain: KAZ12
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Scaly erythroderma at birth, trichorrhexis invaginata,
Symptoms ichtyosis linearis circumflexa, excema-like rashes, hay
Symptoms fever, hyper immunoglobulin E, hypereosinophilia, asthma,
Symptoms failure to thrive, persistent pruritus
Ethnic origin Caucasoid; Scotland
//
ID #E384X403(1a),?; standard; MUTATION; KAZ6,KAZ6
Accession S0025
Systematic name Allele 1: g.37467_37468delGA, c.1150_1151delGA,
Systematic name r.1150_1151delga, p.Asn385fsX19
Original code Family 12
Description Allele 1: a frame shift deletion mutation in the exon
Description 13 leading to a premature stop codon in the KAZ6 domain
Date 09-Mar-2004 (Rel. 1, Created)
Date 09-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11511292
RefAuthors Sprecher, E., Chavanas, S., DiGiovanna, J. J., Amin, S.,
RefAuthors Nielsen, K., Prendiville, J. S., Silverman, R., Esterly,
RefAuthors N. B., Spraker, M. K., Guelig, E., de Luna, M. L.,
RefAuthors Williams, M. L., Buehler, B., Siegfried, E. C., Van
RefAuthors Maldergem, L., Pfendner, E., Bale, S. J., Uitto, J.,
RefAuthors Hovnanian, A., Richard, G.
RefTitle The spectrum of pathogenic mutations in SPINK5 in 19
RefTitle families with netherton syndrome: implications for
RefTitle mutation detection and first case of prenatal diagnosis.
RefLoc J Invest Dermatol 117:179-187 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 37467..37468
Feature /change: -ga
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 1193..1194
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 384
Feature /change: E -> ERSYPGPRWE SARQHLLHVX
Feature /domain: KAZ6
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Ethnic origin Northern European
Relative SPINK5base; S0026;
//
ID #E384X403(1b),?; standard; MUTATION; KAZ6,KAZ6
Accession S0026
Systematic name Allele 1: g.37467_37468delGA, c.1150_1151delGA,
Systematic name r.1150_1151delga, p.Asn385fsX19
Original code Family 12
Description Allele 1: a frame shift deletion mutation in the exon
Description 13 leading to a premature stop codon in the KAZ6 domain
Date 09-Mar-2004 (Rel. 1, Created)
Date 09-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11511292
RefAuthors Sprecher, E., Chavanas, S., DiGiovanna, J. J., Amin, S.,
RefAuthors Nielsen, K., Prendiville, J. S., Silverman, R., Esterly,
RefAuthors N. B., Spraker, M. K., Guelig, E., de Luna, M. L.,
RefAuthors Williams, M. L., Buehler, B., Siegfried, E. C., Van
RefAuthors Maldergem, L., Pfendner, E., Bale, S. J., Uitto, J.,
RefAuthors Hovnanian, A., Richard, G.
RefTitle The spectrum of pathogenic mutations in SPINK5 in 19
RefTitle families with netherton syndrome: implications for
RefTitle mutation detection and first case of prenatal diagnosis.
RefLoc J Invest Dermatol 117:179-187 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 37467..37468
Feature /change: -ga
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 1193..1194
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 384
Feature /change: E -> ERSYPGPRWE SARQHLLHVX
Feature /domain: KAZ6
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Ethnic origin Northern European
Relative SPINK5base; S0025;
//
ID Intron 2(1),@R753X756(1); standard; MUTATION; ,KAZ11
Accession S0001
Systematic name Allele 1: g.2328G>A, c.81G>A, r.81g>a
Systematic name Allele 2: g.55959dupG, c.2258dupG, r.2258dupg,
Systematic name p.Asn755fsX2
Original code Family 1
Description Allele 1: a point mutation in the end of exon 2 leading
Description to aberrant splicing
Description Allele 2: a frame shift duplication in the exon 24 leading
Description to a premature stop codon in the KAZ11 domain
Date 05-Mar-2004 (Rel. 1, Created)
Date 05-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10835624
RefAuthors Chavanas, S., Bodemer, C., Rochat, A., Hamel-Teillac, D.,
RefAuthors Ali, M., Irvine, A. D., Bonafe, J. L., Wilkinson, J.,
RefAuthors Taxeb, A., Barrandon, Y., Harper, J. I., de Prost, Y.,
RefAuthors Hovnanian, A.
RefTitle Mutations in SPINK5, encoding a serine protease
RefTitle inhibitor, cause netherton syndrome.
RefLoc Nat Genet 25:141-142 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 2328
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 55960
Feature /change: +g
Feature /genomic_region: exon; 24
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 2302
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 753
Feature /change: R -> RKKX
Feature /domain: KAZ11
//
ID Intron 6(1),@N755X756(1); standard; MUTATION; ,KAZ11
Accession S0017
Systematic name Allele 1: g.IVS6-2A>G, c.475-2A>G, r.475-2a>g,
Systematic name Allele 2: g.55965dupA, c.2264dupA, r.2264dupa,
Systematic name p.Asn755fsX2
Original code Family 4
Description Allele 1: a point mutation in the intron 6 leading to an
Description aberrant splicing
Description Allele 2: a frame shift duplication in the exon 24 leading
Description to a premature stop codon in the KAZ11 domain
Date 09-Mar-2004 (Rel. 1, Created)
Date 09-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11511292
RefAuthors Sprecher, E., Chavanas, S., DiGiovanna, J. J., Amin, S.,
RefAuthors Nielsen, K., Prendiville, J. S., Silverman, R., Esterly,
RefAuthors N. B., Spraker, M. K., Guelig, E., de Luna, M. L.,
RefAuthors Williams, M. L., Buehler, B., Siegfried, E. C., Van
RefAuthors Maldergem, L., Pfendner, E., Bale, S. J., Uitto, J.,
RefAuthors Hovnanian, A., Richard, G.
RefTitle The spectrum of pathogenic mutations in SPINK5 in 19
RefTitle families with netherton syndrome: implications for
RefTitle mutation detection and first case of prenatal diagnosis.
RefLoc J Invest Dermatol 117:179-187 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 26448
Feature /change: a -> g
Feature /genomic_region: intron; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 55966
Feature /change: +a
Feature /genomic_region: exon; 24
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 2308
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 755
Feature /change: N -> KX
Feature /domain: KAZ11
Ethnic origin Caucasoid; Northern European
//
ID R790X(1),R790X(1); standard; MUTATION; KAZ12,KAZ12
Accession S0010
Systematic name Allele 1 and 2: g.57019C>T, c.2368C>T, r.2368c>u,
Systematic name p.Arg790X
Original code Family 10
Description Allele 1 and 2: a point mutation in the exon 25 leading to
Description a premature stop codon in the KAZ12 domain
Date 08-Mar-2004 (Rel. 1, Created)
Date 08-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10835624
RefAuthors Chavanas, S., Bodemer, C., Rochat, A., Hamel-Teillac, D.,
RefAuthors Ali, M., Irvine, A. D., Bonafe, J. L., Wilkinson, J.,
RefAuthors Taxeb, A., Barrandon, Y., Harper, J. I., de Prost, Y.,
RefAuthors Hovnanian, A.
RefTitle Mutations in SPINK5, encoding a serine protease
RefTitle inhibitor, cause netherton syndrome.
RefLoc Nat Genet 25:141-142 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 57019
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 25
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 2411
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 790
Feature /change: R -> X
Feature /domain: KAZ12
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 57019
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 25
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0080: 2411
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 790
Feature /change: R -> X
Feature /domain: KAZ12
//
ID Intron 17(1),#K823X923(3); standard; MUTATION; ,KAZ12
Accession S0035
Systematic name Allele 1: g.IVS17-1G>A, c.1608-1G>A, r.1608-1g>a,
Systematic name Allele 2: g.57277delA, c.2468delA, r.2468dela,
Systematic name p.Lys823fsX101
Original code Patient 8
Description Allele 1: a point mutation in the intron 17 leading to
Description aberrant splicing
Description Allele 2: a frame shift deletion in the exon 26 leading to
Description a premature stop codon in the KAZ12 domain
Date 12-Mar-2004 (Rel. 1, Created)
Date 12-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841556
RefAuthors Bitoun, E., Chavanas, S., Irvine, A. D., Lonie, L.,
RefAuthors Bodemer, C., Paradisi, M., Hamel-Teillac, D., Ansai, S.,
RefAuthors Mitsuhashi, Y., Taxeb, A., de Prost, Y., Zambruno, G.,
RefAuthors Harper, J. I., Hovnanian, A.
RefTitle Netherton syndrome: disease expression and spectrum of
RefTitle SPINK5 mutations in 21 families.
RefLoc J Invest Dermatol 118:352-361 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 45708
Feature /change: g -> a
Feature /genomic_region: intron; 17
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 57277
Feature /change: -a
Feature /genomic_region: exon; 26
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 2511
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 823
Feature /change: K ->
Feature /change: RKRMKTGAIQ EKGAIQEKGA MTKRICVVNF EACREMESLS
Feature /change: APEKITLFEA HMARCTSINV LCVRASLIEK LMKEKRKMKR
Feature /change: NQVASPQIMQ RMSAVNFETI X
Feature /domain: KAZ12
Symptoms Scaly erythroderma at birth, trichorrhexis invaginata,
Symptoms excema-like rashes, hay fever, hyper immunoglobulin E,
Symptoms failure to thrive, recurrent infections, persistent
Symptoms pruritus, growth retardation, enteropathy
Ethnic origin Caucasoid; France
//
ID #K823X923(4),#K823X923(4); standard; MUTATION; KAZ12,KAZ12
Accession S0081
Systematic name Allele 1 and 2: g.57277delA, c.2468delA, r.2468dela,
Systematic name p.Lys823fsX101
Original code P.3
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 26 leading to a premature stop codon in the KAZ12 domain
Date 27-Jul-2010 (Rel. 1, Created)
Date 27-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19683336
RefAuthors Renner, E. D., Hartl, D., Rylaarsdam, S., Young, M. L.,
RefAuthors Monaco-Shawver, L., Kleiner, G., Markert, M. L., Stiehm,
RefAuthors E. R., Belohradsky, B. H., Upton, M. P., Torgerson, T. R.,
RefAuthors Orange, J. S., Ochs, H. D.
RefTitle Comèl-netherton syndrome defined as primary
RefTitle immunodeficiency.
RefLoc J Allergy Clin Immunol:536-543 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 57277
Feature /change: -a
Feature /genomic_region: exon; 26
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080; GI:4585698; SPINK5C: 2511
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 823
Feature /change: K ->
Feature /change: RKRMKTGAIQ EKGAIQEKGA MTKRICVVNF EACREMESLS
Feature /change: APEKITLFEA HMARCTSINV LCVRASLIEK LMKEKRKMKR
Feature /change: NQVASPQIMQ RMSAVNFETI X
Feature /domain: KAZ12
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 57277
Feature /change: -a
Feature /genomic_region: exon; 26
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080; GI:4585698; SPINK5C: 2511
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 823
Feature /change: K ->
Feature /change: RKRMKTGAIQ EKGAIQEKGA MTKRICVVNF EACREMESLS
Feature /change: APEKITLFEA HMARCTSINV LCVRASLIEK LMKEKRKMKR
Feature /change: NQVASPQIMQ RMSAVNFETI X
Feature /domain: KAZ12
Symptoms Congenital ichthyosis; Bamboo hair; Rhinitis; Food allergy;
Symptoms Asthma; Eczema; Recurrent skin, GIT and respiratory tract
Symptoms infections; Pneumonia; Failure to thrive;
Age 6
Sex XY
//
ID #K823X923(5),#K823X923(5); standard; MUTATION; KAZ12,KAZ12
Accession S0084
Systematic name Allele 1 and 2: g.57277delA, c.2468delA, r.2468dela,
Systematic name p.Lys823fsX101
Original code P.6
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 26 leading to a premature stop codon in the KAZ12 domain
Date 27-Jul-2010 (Rel. 1, Created)
Date 27-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19683336
RefAuthors Renner, E. D., Hartl, D., Rylaarsdam, S., Young, M. L.,
RefAuthors Monaco-Shawver, L., Kleiner, G., Markert, M. L., Stiehm,
RefAuthors E. R., Belohradsky, B. H., Upton, M. P., Torgerson, T. R.,
RefAuthors Orange, J. S., Ochs, H. D.
RefTitle Comèl-netherton syndrome defined as primary
RefTitle immunodeficiency.
RefLoc J Allergy Clin Immunol:536-543 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 57277
Feature /change: -a
Feature /genomic_region: exon; 26
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080; GI:4585698; SPINK5C: 2511
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 823
Feature /change: K ->
Feature /change: RKRMKTGAIQ EKGAIQEKGA MTKRICVVNF EACREMESLS
Feature /change: APEKITLFEA HMARCTSINV LCVRASLIEK LMKEKRKMKR
Feature /change: NQVASPQIMQ RMSAVNFETI X
Feature /domain: KAZ12
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 57277
Feature /change: -a
Feature /genomic_region: exon; 26
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080; GI:4585698; SPINK5C: 2511
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 823
Feature /change: K ->
Feature /change: RKRMKTGAIQ EKGAIQEKGA MTKRICVVNF EACREMESLS
Feature /change: APEKITLFEA HMARCTSINV LCVRASLIEK LMKEKRKMKR
Feature /change: NQVASPQIMQ RMSAVNFETI X
Feature /domain: KAZ12
Symptoms Congenital ichthyosis; Bamboo hair; Rhinitis; Eczema;
Symptoms Recurrent skin and respiratory tract infections;
Age 7
Sex XY
//
ID Intron 4(1),@K823X827(1); standard; MUTATION; ,KAZ12
Accession S0005
Systematic name Allele 1: g.IVS4-2A>T, c.283-2A>T, r.283-2a>u,
Systematic name Allele 2: g.57277dupA, c.2468dupA, r.2468dupa,
Systematic name p.Lys824fsX4
Original code Family 5
Description Allele 1: a point mutation in the intron 4 leading to
Description aberrant splicing
Description Allele 2: a frame shift duplication in the exon 26 leading
Description to a premature stop codon in the KAZ12 domain
Date 05-Mar-2004 (Rel. 1, Created)
Date 05-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10835624
RefAuthors Chavanas, S., Bodemer, C., Rochat, A., Hamel-Teillac, D.,
RefAuthors Ali, M., Irvine, A. D., Bonafe, J. L., Wilkinson, J.,
RefAuthors Taxeb, A., Barrandon, Y., Harper, J. I., de Prost, Y.,
RefAuthors Hovnanian, A.
RefTitle Mutations in SPINK5, encoding a serine protease
RefTitle inhibitor, cause netherton syndrome.
RefLoc Nat Genet 25:141-142 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 23359
Feature /change: a -> t
Feature /genomic_region: intron; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 57278
Feature /change: +a
Feature /genomic_region: exon; 26
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 2512
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 823
Feature /change: K -> KERGX
Feature /domain: KAZ12
//
ID @K823X827(2),@K823X827(2); standard; MUTATION; KAZ12,KAZ12
Accession S0011
Systematic name Allele 1 and 2: g.57277dupA, c.2468dupA, r.2468dupa,
Systematic name p.Lys824fsX4
Original code Family 11
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 26 leading to a premature stop codon in the KAZ12
Description domain
Date 08-Mar-2004 (Rel. 1, Created)
Date 08-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10835624
RefAuthors Chavanas, S., Bodemer, C., Rochat, A., Hamel-Teillac, D.,
RefAuthors Ali, M., Irvine, A. D., Bonafe, J. L., Wilkinson, J.,
RefAuthors Taxeb, A., Barrandon, Y., Harper, J. I., de Prost, Y.,
RefAuthors Hovnanian, A.
RefTitle Mutations in SPINK5, encoding a serine protease
RefTitle inhibitor, cause netherton syndrome.
RefLoc Nat Genet 25:141-142 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 57278
Feature /change: +a
Feature /genomic_region: exon; 26
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 2512
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 823
Feature /change: K -> KERGX
Feature /domain: KAZ12
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 57278
Feature /change: +a
Feature /genomic_region: exon; 26
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 2512
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 823
Feature /change: K -> KERGX
Feature /domain: KAZ12
Ethnic origin Kashmeer
//
ID @K823X827(3),@K823X827(3); standard; MUTATION; KAZ12,KAZ12
Accession S0012
Systematic name Allele 1 and 2: g.57277dupA, c.2468dupA, r.2468dupa,
Systematic name p.Lys824fsX4
Original code Family 12
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 26 leading to a premature stop codon in the KAZ12
Description domain
Date 08-Mar-2004 (Rel. 1, Created)
Date 08-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10835624
RefAuthors Chavanas, S., Bodemer, C., Rochat, A., Hamel-Teillac, D.,
RefAuthors Ali, M., Irvine, A. D., Bonafe, J. L., Wilkinson, J.,
RefAuthors Taxeb, A., Barrandon, Y., Harper, J. I., de Prost, Y.,
RefAuthors Hovnanian, A.
RefTitle Mutations in SPINK5, encoding a serine protease
RefTitle inhibitor, cause netherton syndrome.
RefLoc Nat Genet 25:141-142 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 57278
Feature /change: +a
Feature /genomic_region: exon; 26
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 2512
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 823
Feature /change: K -> KERGX
Feature /domain: KAZ12
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 57278
Feature /change: +a
Feature /genomic_region: exon; 26
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 2512
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 823
Feature /change: K -> KERGX
Feature /domain: KAZ12
Ethnic origin Kashmeer
//
ID @K823X827(4),@K823X827(4); standard; MUTATION; KAZ12,KAZ12
Accession S0013
Systematic name Allele 1 and 2: g.57277dupA, c.2468dupA, r.2468dupa,
Systematic name p.Lys824fsX4
Original code Family 13
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 26 leading to a premature stop codon in the KAZ12
Description domain
Date 08-Mar-2004 (Rel. 1, Created)
Date 08-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10835624
RefAuthors Chavanas, S., Bodemer, C., Rochat, A., Hamel-Teillac, D.,
RefAuthors Ali, M., Irvine, A. D., Bonafe, J. L., Wilkinson, J.,
RefAuthors Taxeb, A., Barrandon, Y., Harper, J. I., de Prost, Y.,
RefAuthors Hovnanian, A.
RefTitle Mutations in SPINK5, encoding a serine protease
RefTitle inhibitor, cause netherton syndrome.
RefLoc Nat Genet 25:141-142 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 57278
Feature /change: +a
Feature /genomic_region: exon; 26
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 2512
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 823
Feature /change: K -> KERGX
Feature /domain: KAZ12
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 57278
Feature /change: +a
Feature /genomic_region: exon; 26
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 2512
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 823
Feature /change: K -> KERGX
Feature /domain: KAZ12
Ethnic origin Kashmeer
//
ID @K823X827(5),@K823X827(5); standard; MUTATION; KAZ12,KAZ12
Accession S0043
Systematic name Allele 1 and 2: g.57277dupA, c.2468dupA, r.2468dupa,
Systematic name p.Lys824fsX4
Original code Patient 14
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 26 leading to a premature stop codon in the KAZ12
Description domain
Date 12-Mar-2004 (Rel. 1, Created)
Date 12-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841556
RefAuthors Bitoun, E., Chavanas, S., Irvine, A. D., Lonie, L.,
RefAuthors Bodemer, C., Paradisi, M., Hamel-Teillac, D., Ansai, S.,
RefAuthors Mitsuhashi, Y., Taxeb, A., de Prost, Y., Zambruno, G.,
RefAuthors Harper, J. I., Hovnanian, A.
RefTitle Netherton syndrome: disease expression and spectrum of
RefTitle SPINK5 mutations in 21 families.
RefLoc J Invest Dermatol 118:352-361 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 57278
Feature /change: +a
Feature /genomic_region: exon; 26
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 2512
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 823
Feature /change: K -> KERGX
Feature /domain: KAZ12
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 57278
Feature /change: +a
Feature /genomic_region: exon; 26
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 2512
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 823
Feature /change: K -> KERGX
Feature /domain: KAZ12
Symptoms Scaly erythroderma at birth, trichorrhexis invaginata,
Symptoms ichtyosis linearis circumflexa, excema-like rashes, hyper
Symptoms immunoglobulin E, failure to thrive, recurrent infections,
Symptoms hypernatremic dehydration, persistent pruritus, growth
Symptoms retardation, enteropathy
Ethnic origin Mongoloid; Pakistan
Parents Consanguineous
//
ID @K823X827(6),@K823X827(6); standard; MUTATION; KAZ12,KAZ12
Accession S0059
Systematic name Allele 1 and 2: g.57277dupA, c.2468dupA, r.2468dupa,
Systematic name p.Lys824fsX4
Original code Patient 4
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 26 leading to a premature stop codon in the KAZ12
Description domain
Date 21-Dec-2004 (Rel. 1, Created)
Date 21-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15304086
RefAuthors Raghunath, M., Tontsidou, L., Oji, V., Aufenvenne, K.,
RefAuthors Schurmeyer-Horst, F., Jayakumar, A., Stander, H., Smolle,
RefAuthors J., Clayman, G. L., Traupe, H.
RefTitle SPINK5 and netherton syndrome: novel mutations,
RefTitle demonstration of missing LEKTI, and differential
RefTitle expression of transglutaminases.
RefLoc J Invest Dermatol 123:474-483 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 57278
Feature /change: +a
Feature /genomic_region: exon; 26
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 2512
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 823
Feature /change: K -> KERGX
Feature /domain: KAZ12
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 57278
Feature /change: +a
Feature /genomic_region: exon; 26
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 2512
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 823
Feature /change: K -> KERGX
Feature /domain: KAZ12
Parents Consanguineous
//
ID Intron 15(2),@K823X827(7); standard; MUTATION; ,KAZ12
Accession S0060
Systematic name Allele 1: g.IVS15-12G>A, c.1431-12G>A, r.1431-12g>a,
Systematic name Allele 2: g.57277dupA, c.2468dupA, r.2468dupa, p.Lys824fsX4
Original code Patient 5
Description Allele 1: a point mutation in the intron 15 leading to
Description aberrant splicing
Description Allele 2: a frame shift duplication in the exon 26 leading
Description to a premature stop codon in the KAZ12 domain
Date 21-Dec-2004 (Rel. 1, Created)
Date 21-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15304086
RefAuthors Raghunath, M., Tontsidou, L., Oji, V., Aufenvenne, K.,
RefAuthors Schurmeyer-Horst, F., Jayakumar, A., Stander, H., Smolle,
RefAuthors J., Clayman, G. L., Traupe, H.
RefTitle SPINK5 and netherton syndrome: novel mutations,
RefTitle demonstration of missing LEKTI, and differential
RefTitle expression of transglutaminases.
RefLoc J Invest Dermatol 123:474-483 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 41896
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -12
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0080: 57278
Feature /change: +a
Feature /genomic_region: exon; 26
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 2512
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 823
Feature /change: K -> KERGX
Feature /domain: KAZ12
//
ID Intron 20(2),#K860X923(1); standard; MUTATION; ,KAZ13
Accession S0016
Systematic name Allele 1: g.IVS20-1G>A, c.1888-1G>A, r.1888-1g>a,
Systematic name Allele 2: g.60829delA, c.2579delA, r.2579dela,
Systematic name p.Lys860fsX64
Original code Family 3
Description Allele 1: a point mutation in the intron 20 leading to an
Description aberrant splicing
Description Allele 2: a frame shift deletion in the exon 27 leading to
Description a premature stop codon in the KAZ13 domain
Date 09-Mar-2004 (Rel. 1, Created)
Date 09-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11511292
RefAuthors Sprecher, E., Chavanas, S., DiGiovanna, J. J., Amin, S.,
RefAuthors Nielsen, K., Prendiville, J. S., Silverman, R., Esterly,
RefAuthors N. B., Spraker, M. K., Guelig, E., de Luna, M. L.,
RefAuthors Williams, M. L., Buehler, B., Siegfried, E. C., Van
RefAuthors Maldergem, L., Pfendner, E., Bale, S. J., Uitto, J.,
RefAuthors Hovnanian, A., Richard, G.
RefTitle The spectrum of pathogenic mutations in SPINK5 in 19
RefTitle families with netherton syndrome: implications for
RefTitle mutation detection and first case of prenatal diagnosis.
RefLoc J Invest Dermatol 117:179-187 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 51317
Feature /change: g -> a
Feature /genomic_region: intron; 20
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 60829
Feature /change: -a
Feature /genomic_region: exon; 27
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0080: 2622
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 860
Feature /change: K ->
Feature /change: SLSAPEKITL FEAHMARCTS INVLCVRASL IEKLMKEKRK
Feature /change: MKRNQVASPQ IMQRMSAVNF ETIX
Feature /domain: KAZ13
Ethnic origin Caucasoid; English/Italian
//
ID Intron 2(1),Intron 2(1); standard; MUTATION;
Accession S0018
Systematic name Allele 1 and 2: g.IVS2+2T>A, c.81+2T>A, r.81+2u>a,
Original code Family 5
Description Allele 1 and 2: a point mutation in the intron 2 leading
Description to an amino acid change
Date 09-Mar-2004 (Rel. 1, Created)
Date 09-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11511292
RefAuthors Sprecher, E., Chavanas, S., DiGiovanna, J. J., Amin, S.,
RefAuthors Nielsen, K., Prendiville, J. S., Silverman, R., Esterly,
RefAuthors N. B., Spraker, M. K., Guelig, E., de Luna, M. L.,
RefAuthors Williams, M. L., Buehler, B., Siegfried, E. C., Van
RefAuthors Maldergem, L., Pfendner, E., Bale, S. J., Uitto, J.,
RefAuthors Hovnanian, A., Richard, G.
RefTitle The spectrum of pathogenic mutations in SPINK5 in 19
RefTitle families with netherton syndrome: implications for
RefTitle mutation detection and first case of prenatal diagnosis.
RefLoc J Invest Dermatol 117:179-187 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 2330
Feature /change: t -> a
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 2330
Feature /change: t -> a
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Ethnic origin Irish/Scottish
//
ID Intron 2(3),Intron 23(3); standard; MUTATION;
Accession S0034
Systematic name Allele 1: g.IVS2+5G>A, c.81+5G>A, r.81+5g>a,
Systematic name Allele 2: g.IVS23+1G>A, c.2240+1G>A, r.2240+1g>a,
Original code Patient 7
Description Allele 1: a point mutation in the intron 2 leading to
Description aberrant splicing
Description Allele 2: a point mutation in the intron 23 leading to
Description aberrant splicing
Date 12-Mar-2004 (Rel. 1, Created)
Date 12-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841556
RefAuthors Bitoun, E., Chavanas, S., Irvine, A. D., Lonie, L.,
RefAuthors Bodemer, C., Paradisi, M., Hamel-Teillac, D., Ansai, S.,
RefAuthors Mitsuhashi, Y., Taxeb, A., de Prost, Y., Zambruno, G.,
RefAuthors Harper, J. I., Hovnanian, A.
RefTitle Netherton syndrome: disease expression and spectrum of
RefTitle SPINK5 mutations in 21 families.
RefLoc J Invest Dermatol 118:352-361 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 2333
Feature /change: g -> a
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 55521
Feature /change: g -> a
Feature /genomic_region: intron; 23
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Scaly erythroderma at birth, trichorrhexis invaginata,
Symptoms excema-like rashes, hyper immunoglobulin E, urticaria,
Symptoms recurrent infections, hypernatremic dehydration,
Symptoms persistent pruritus
Ethnic origin Caucasoid; France
//
ID Intron 15(1a),Intron 15(1a); standard; MUTATION;
Accession S0055
Systematic name Allele 1 and 2: g.IVS15-12G>A, c.1431-12G>A, r.1431-12g>a,
Original code Patient 2.1
Description Allele 1 and 2: a point mutation in the intron 15 leading
Description to aberrant splicing
Date 21-Dec-2004 (Rel. 1, Created)
Date 21-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15304086
RefAuthors Raghunath, M., Tontsidou, L., Oji, V., Aufenvenne, K.,
RefAuthors Schurmeyer-Horst, F., Jayakumar, A., Stander, H., Smolle,
RefAuthors J., Clayman, G. L., Traupe, H.
RefTitle SPINK5 and netherton syndrome: novel mutations,
RefTitle demonstration of missing LEKTI, and differential
RefTitle expression of transglutaminases.
RefLoc J Invest Dermatol 123:474-483 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 41896
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -12
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 41896
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -12
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Sex XY
Relative SPINK5base; S0056; sister
//
ID Intron 15(1b),Intron 15(1b); standard; MUTATION;
Accession S0056
Systematic name Allele 1 and 2: g.IVS15-12G>A, c.1431-12G>A, r.1431-12g>a,
Original code Patient 2.2
Description Allele 1 and 2: a point mutation in the intron 15 leading
Description to aberrant splicing
Date 21-Dec-2004 (Rel. 1, Created)
Date 21-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15304086
RefAuthors Raghunath, M., Tontsidou, L., Oji, V., Aufenvenne, K.,
RefAuthors Schurmeyer-Horst, F., Jayakumar, A., Stander, H., Smolle,
RefAuthors J., Clayman, G. L., Traupe, H.
RefTitle SPINK5 and netherton syndrome: novel mutations,
RefTitle demonstration of missing LEKTI, and differential
RefTitle expression of transglutaminases.
RefLoc J Invest Dermatol 123:474-483 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 41896
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -12
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 41896
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -12
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Sex XX
Relative SPINK5base; S0055; brother
//
ID Intron 15(3),Intron 15(3); standard; MUTATION;
Accession S0072
Systematic name Allele 1 and 2: g.IVS15+2T>G, c.1430+2T>G, r.1430+2u>g
Original code Family 1 IV-2
Description Allele 1 and 2: A point mutation in the intron 15 leading
Description to an amino acid change
Date 04-Jun-2008 (Rel. 1, Created)
Date 04-Jun-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17608759
RefAuthors Zhao, Y., Ma, Z. H., Yang, Y., Yang, S. X., Wu, L. S.,
RefAuthors Ding, B. L., Lin, Z. M., Wang, A. P., Bu, D. F., Tu, P.
RefTitle SPINK5 gene mutation and decreased LEKTI activity in three
RefTitle chinese patients with netherton's syndrome.
RefLoc Clin Exp Dermatol:564-567 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 38866
Feature /change: t -> g
Feature /genomic_region: intron; 15
Feature /genomic_region: 3'UTR
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 38866
Feature /change: t -> g
Feature /genomic_region: intron; 15
Feature /genomic_region: 3'UTR
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms recurrent scaling erythema, allergy problems, elevated
Symptoms serum IgE, trichorrhexis, invaginata of the hair, eyebrows,
Symptoms beard, axillary and pubic hair, decreased activity of LEKTI
Symptoms in the skin, intercellular spaces in the SC were wider with
Symptoms thin regular degenerated desmosomes, lamellar bodies and
Symptoms foci of electron dense material, lamellar bodies were
Symptoms fusiform in shape and some had clear lamellar structures
Sex XY
Ethnic origin Mongoloid; China
//
ID Intron 15(5),?; standard; MUTATION;
Accession S0082
Systematic name Allele 1: g.41896G>A, c.1431-12G>A, r.1431-12g>a
Original code P.4
Description Allele 1: A point mutation in the intron 15 leading
Description to aberrant splicing
Date 27-Jul-2010 (Rel. 1, Created)
Date 27-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19683336
RefAuthors Renner, E. D., Hartl, D., Rylaarsdam, S., Young, M. L.,
RefAuthors Monaco-Shawver, L., Kleiner, G., Markert, M. L., Stiehm,
RefAuthors E. R., Belohradsky, B. H., Upton, M. P., Torgerson, T. R.,
RefAuthors Orange, J. S., Ochs, H. D.
RefTitle Comèl-netherton syndrome defined as primary
RefTitle immunodeficiency.
RefLoc J Allergy Clin Immunol:536-543 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 41896
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -12
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Congenital ichthyosis; Bamboo hair; Rhinitis; Food allergy;
Symptoms Asthma; Eczema; Angioedema; Recurrent skin, GIT and
Symptoms respiratory tract infections; Sepsis;
Age 9
Sex XY
//
ID Intron 20(1),Intron 20(1); standard; MUTATION;
Accession S0008
Systematic name Allele 1 and 2: g.IVS20-1G>A, c.1888-1G>A, r.1888-1g>a,
Original code Family 8
Description Allele 1 and 2: a point mutation in the intron 20 leading
Description to aberrant splicing
Date 08-Mar-2004 (Rel. 1, Created)
Date 08-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10835624
RefAuthors Chavanas, S., Bodemer, C., Rochat, A., Hamel-Teillac, D.,
RefAuthors Ali, M., Irvine, A. D., Bonafe, J. L., Wilkinson, J.,
RefAuthors Taxeb, A., Barrandon, Y., Harper, J. I., de Prost, Y.,
RefAuthors Hovnanian, A.
RefTitle Mutations in SPINK5, encoding a serine protease
RefTitle inhibitor, cause netherton syndrome.
RefLoc Nat Genet 25:141-142 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 51317
Feature /change: g -> a
Feature /genomic_region: intron; 20
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0080: 1931
Feature /change: -g
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 630
Feature /change: E ->
Feature /change: RHAMNFGDFC KMENFSAQEK MILCVAQMAR PMATSVPCVR
Feature /change: QSSRKKMRKE RGKKRKIREM LQDMVPVVVE EETLRTNVLS
Feature /change: IRNKX
Feature /domain: KAZ10
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 51317
Feature /change: g -> a
Feature /genomic_region: intron; 20
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0080: 1931
Feature /change: -g
Feature /inexloc: -1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 630
Feature /change: E ->
Feature /change: RHAMNFGDFC KMENFSAQEK MILCVAQMAR PMATSVPCVR
Feature /change: QSSRKKMRKE RGKKRKIREM LQDMVPVVVE EETLRTNVLS
Feature /change: IRNKX
Feature /domain: KAZ10
//
ID Intron 20(3),Intron 20(3); standard; MUTATION;
Accession S0037
Systematic name Allele 1 and 2: g.IVS20-1G>A, c.1888-1G>A, r.1888-1g>a,
Original code Patient 10
Description Allele 1 and 2: a point mutation in the intron 20 leading
Description to aberrant splicing
Date 12-Mar-2004 (Rel. 1, Created)
Date 12-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841556
RefAuthors Bitoun, E., Chavanas, S., Irvine, A. D., Lonie, L.,
RefAuthors Bodemer, C., Paradisi, M., Hamel-Teillac, D., Ansai, S.,
RefAuthors Mitsuhashi, Y., Taxeb, A., de Prost, Y., Zambruno, G.,
RefAuthors Harper, J. I., Hovnanian, A.
RefTitle Netherton syndrome: disease expression and spectrum of
RefTitle SPINK5 mutations in 21 families.
RefLoc J Invest Dermatol 118:352-361 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 51317
Feature /change: g -> a
Feature /genomic_region: intron; 20
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 51317
Feature /change: g -> a
Feature /genomic_region: intron; 20
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Scaly erythroderma at birth, trichorrhexis invaginata,
Symptoms excema-like rashes, hyper immunoglobulin E,
Symptoms hypereosinophilia, failure to thrive, persistent pruritus,
Symptoms growth retardation
Ethnic origin Caucasoid; Italy
Parents Consanguineous
//
ID Intron 22(1),?; standard; MUTATION;
Accession S0027
Systematic name Allele 1: g.IVS22+1G>A, c.2112+1G>A, r.2112+1g>a,
Original code Family 13
Description Allele 1: a point mutation in the intron 22 leading
Description to aberrant splicing
Date 09-Mar-2004 (Rel. 1, Created)
Date 09-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11511292
RefAuthors Sprecher, E., Chavanas, S., DiGiovanna, J. J., Amin, S.,
RefAuthors Nielsen, K., Prendiville, J. S., Silverman, R., Esterly,
RefAuthors N. B., Spraker, M. K., Guelig, E., de Luna, M. L.,
RefAuthors Williams, M. L., Buehler, B., Siegfried, E. C., Van
RefAuthors Maldergem, L., Pfendner, E., Bale, S. J., Uitto, J.,
RefAuthors Hovnanian, A., Richard, G.
RefTitle The spectrum of pathogenic mutations in SPINK5 in 19
RefTitle families with netherton syndrome: implications for
RefTitle mutation detection and first case of prenatal diagnosis.
RefLoc J Invest Dermatol 117:179-187 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 53423
Feature /change: g -> a
Feature /genomic_region: intron; 22
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Ethnic origin Argentinian
//
ID Intron 23(2),?; standard; MUTATION;
Accession S0033
Systematic name Allele 1: g.IVS23+1G>A, c.2240+1G>A, r.2240+1g>a,
Original code Patient 6
Description Allele 1: a point mutation in the intron 23 leading
Description to aberrant splicing
Date 12-Mar-2004 (Rel. 1, Created)
Date 12-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11841556
RefAuthors Bitoun, E., Chavanas, S., Irvine, A. D., Lonie, L.,
RefAuthors Bodemer, C., Paradisi, M., Hamel-Teillac, D., Ansai, S.,
RefAuthors Mitsuhashi, Y., Taxeb, A., de Prost, Y., Zambruno, G.,
RefAuthors Harper, J. I., Hovnanian, A.
RefTitle Netherton syndrome: disease expression and spectrum of
RefTitle SPINK5 mutations in 21 families.
RefLoc J Invest Dermatol 118:352-361 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 55521
Feature /change: g -> a
Feature /genomic_region: intron; 23
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Scaly erythroderma at birth, trichorrhexis invaginata,
Symptoms ichtyosis linearis circumflexa, excema-like rashes,
Symptoms angioedema, hay fever, hyper immunoglobulin E, urticaria,
Symptoms failure to thrive, recurrent infections, persistent
Symptoms pruritus, growth retardation
Ethnic origin Caucasoid; England
//
ID Intron 24(1),Intron 24(1); standard; MUTATION;
Accession S0009
Systematic name Allele 1 and 2: g.56014G>A, c.2313G>A, r.2313g>a
Original code Family 9
Description Allele 1 and 2: a point mutation in the end of exon 24
Description leading to aberrant splicing
Date 08-Mar-2004 (Rel. 1, Created)
Date 08-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10835624
RefAuthors Chavanas, S., Bodemer, C., Rochat, A., Hamel-Teillac, D.,
RefAuthors Ali, M., Irvine, A. D., Bonafe, J. L., Wilkinson, J.,
RefAuthors Taxeb, A., Barrandon, Y., Harper, J. I., de Prost, Y.,
RefAuthors Hovnanian, A.
RefTitle Mutations in SPINK5, encoding a serine protease
RefTitle inhibitor, cause netherton syndrome.
RefLoc Nat Genet 25:141-142 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0080: 56014
Feature /change: g -> a
Feature /genomic_region: exon; 24
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0080: 2284..2356
Feature /change: -ggaaagagaa gcagagagaa aaaatgagta ttctcgctcc
Feature /change: agatcaaatg ggactggatc agaatcaggg aag
Feature /note: skipping of exon 24
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 747..771
Feature /change: LEREAERKNE YSRSRSNGTG SESGK -> LIHVMSLEAK X
Feature /domain: KAZ11
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0080: 56014
Feature /change: g -> a
Feature /genomic_region: exon; 24
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0080: 2284..2356
Feature /change: -ggaaagagaa gcagagagaa aaaatgagta ttctcgctcc
Feature /change: agatcaaatg ggactggatc agaatcaggg aag
Feature /note: skipping of exon 24
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9NQ38; ISK5_HUMAN: 747..771
Feature /change: LEREAERKNE YSRSRSNGTG SESGK -> LIHVMSLEAK X
Feature /domain: KAZ11
//
ID Intron 25(1a),Intron 25(1a); standard; MUTATION;
Accession S0086
Systematic name Allele 1 and 2: g.57095_57098delGAGT,
Systematic name c.2441+3_2441+6delGAGT, r.2441+3_2441+6delgagu
Original code P.1
Description Allele 1 and 2: A deletion in the intron 25 leading to
Description aberrant splicing
Date 27-Jul-2010 (Rel. 1, Created)
Date 27-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20107740
RefAuthors Tuysuz, B., Ojalvo, D., Mat, C., Zambruno, G., Covaciu,
RefAuthors C., Castiglia, D., D'Alessio, M.
RefTitle A new SPINK5 donor splice site mutation in siblings with
RefTitle netherton syndrome.
RefLoc Acta Derm Venereol:95-96 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 57095..57098
Feature /change: -gagt
Feature /genomic_region: intron; 25
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +3
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 57095..57098
Feature /change: -gagt
Feature /genomic_region: intron; 25
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +3
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Recurrent pulmonary infections; Polycyclic erythematous
Symptoms pathches; Psoriasiform epidermal hyperplasia;
Symptoms Parakeratosis; Focal sponfiosis;
Age 6.5
Ethnic origin Turkey
Parents Consanguineous
Relative SPINK5base; S0087; sibling
IgE 11,300 IU/ml
//
ID Intron 25(1b),Intron 25(1b); standard; MUTATION;
Accession S0087
Systematic name Allele 1 and 2: g.57095_57098delGAGT,
Systematic name c.2441+3_2441+6delGAGT, r.2441+3_2441+6delgagu
Original code P.2
Description Allele 1 and 2: A deletion in the intron 25 leading to
Description aberrant splicing
Date 27-Jul-2010 (Rel. 1, Created)
Date 27-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20107740
RefAuthors Tuysuz, B., Ojalvo, D., Mat, C., Zambruno, G., Covaciu,
RefAuthors C., Castiglia, D., D'Alessio, M.
RefTitle A new SPINK5 donor splice site mutation in siblings with
RefTitle netherton syndrome.
RefLoc Acta Derm Venereol:95-96 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 57095..57098
Feature /change: -gagt
Feature /genomic_region: intron; 25
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +3
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0080: 57095..57098
Feature /change: -gagt
Feature /genomic_region: intron; 25
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +3
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Recurrent pulmonary infections; Polycyclic erythematous
Symptoms pathches; Psoriasiform epidermal hyperplasia;
Symptoms Parakeratosis; Focal sponfiosis;
Age 2
Ethnic origin Turkey
Parents Consanguineous
Relative SPINK5base; S0086; sibling
IgE 12,500 IU/ml
//
//
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