Database LYSTbase
Version 1.0
File lystpub.html
Date 21-Mar-2014
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/LYSTbase/
FTP ftp://protein.uta.fi/pub/lystpub.dat
IDR factfile http://structure.bmc.lu.se/idbase/xml/idr/ff/FF79.xml
Gene LYST
Disease Chediak-Higashi syndrome
OMIM 606897
GDB 4568202
Sequence IDRefSeq:D0020; IDRefSeq:C0020; UniProt:Q99698
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments previously known as CHS1base
Comments sequence entry reference in every entry
//
ID @A40X63(1),?; standard; MUTATION;
Accession C0001
Systematic name Allele 1: g.37626_37627insG, c.307_308insG,
Systematic name p.A40fsX63
Original code Patient 371
Description Allele 1: insertion in the exon 3 leading to a
Description premature stop codon
Date 19-May-2003 (Rel. 1, Created)
Date 19-May-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8717042
RefAuthors Barbosa, M. D., Nguyen, Q. A., Tchernev, V. T., Ashley, J.
RefAuthors A., Detter, J. C., Blaydes, S. M., Brandt, S. J., Chotai,
RefAuthors D., Hodgman, C., Solari, R. C., Lovett, M., Kingsmore, S.
RefAuthors F.
RefTitle Identification of the homologous beige and chediak-higashi
RefTitle syndrome genes.
RefLoc Nature 382:262-265 (1996)
RefNumber [2]
RefCrossRef PUBMED; 9215680
RefAuthors Barbosa, M. D., Barrat, F. J., Tchernev, V. T., Nguyen, Q.
RefAuthors A., Mishra, V. S., Colman, S. D., Pastural, E., Dufourcq-
RefAuthors Lagelouse, R., Fischer, A., Holcombe, R. F., Wallace, M.
RefAuthors R., Brandt, S. J., de Saint Basile, G., Kingsmore, S. F.
RefTitle Identification of mutations in two major mRNA isoforms of
RefTitle the chediak-higashi syndrome gene in human and mouse.
RefLoc Hum Mol Genet 6:1091-1098 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0020: 37627
Feature /change: +g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 308
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 40
Feature /change: A -> GNPWTVPCPW SRISITYQAK FYNX
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
Diagnosis Chediak-Higashi syndrome
//
ID @A40X63(2),@A40X63(2); standard; MUTATION;
Accession C0009
Systematic name Allele 1 and 2: g.37626_37627insG, c.307_308insG,
Systematic name p.A40fsX63
Original code Patient 3
Description Allele 1 and 2: insertion in the exon 3 leading to a
Description premature stop codon
Date 20-May-2003 (Rel. 1, Created)
Date 20-May-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8896560
RefAuthors Nagle, D. L., Karim, M. A., Woolf, E. A., Holmgren, L.,
RefAuthors Bork, P., Misumi, D. J., McGrail, S. H., Dussault, B. J.,
RefAuthors Perou, C. M., Boissy, R. E., Duyk, G. M., Spritz, R. A.,
RefAuthors Moore, K. J.
RefTitle Identification and mutation analysis of the complete gene
RefTitle for chediak-higashi syndrome.
RefLoc Nat Genet 14:307-311 (1996)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0020: 37627
Feature /change: +g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 308
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 40
Feature /change: A -> GNPWTVPCPW SRISITYQAK FYNX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0020: 37627
Feature /change: +g
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 308
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 40
Feature /change: A -> GNPWTVPCPW SRISITYQAK FYNX
Diagnosis CHS childhood type
Symptoms Mental retardation
Symptoms Peripheral neuropathy
Symptoms Others:
Symptoms Recurrent skin infections
Sex XX
Ethnic origin Caucasoid
Parents Consanguineous
//
ID R50X(1),?; standard; MUTATION;
Accession C0004
Systematic name Allele 1: g.37656C>T, c.337C>T, p.R50X
Original code Patient 373
Description Allele 1: point mutation in the exon 3 leading to a
Description premature stop codon
Date 20-May-2003 (Rel. 1, Created)
Date 20-May-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9215680
RefAuthors Barbosa, M. D., Barrat, F. J., Tchernev, V. T., Nguyen, Q.
RefAuthors A., Mishra, V. S., Colman, S. D., Pastural, E., Dufourcq-
RefAuthors Lagelouse, R., Fischer, A., Holcombe, R. F., Wallace, M.
RefAuthors R., Brandt, S. J., de Saint Basile, G., Kingsmore, S. F.
RefTitle Identification of mutations in two major mRNA isoforms of
RefTitle the chediak-higashi syndrome gene in human and mouse.
RefLoc Hum Mol Genet 6:1091-1098 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0020: 37656
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0020: 337
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 50
Feature /change: R -> X
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
Feature /change: R -> X
Diagnosis Chediak-Higashi syndrome
Comment -!-Mild clinical course. Patient has not had systemic
Comment -!-infections and remains alive at age 37.
//
ID @L192X197(1),@L192X197(1); standard; MUTATION;
Accession C0032
Systematic name Allele 1 and 2: g.57683dupT, c.575dupT, r.575dupu,
Systematic name p.Leu192fsX6
Original code P.1
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 5 leading to a premature stop codon
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19650863
RefAuthors Scherber, E., Beutel, K., Ganschow, R., Schulz, A., Janka,
RefAuthors G., Stadt, U.
RefTitle Molecular analysis and clinical aspects of four patients
RefTitle with chédiak-higashi syndrome (CHS).
RefLoc Clin Genet:409-412 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0020: 57684
Feature /change: +t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020; GI:1685033; LYSTC: 765
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 192
Feature /change: L -> FNIVSX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0020: 57684
Feature /change: +t
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020; GI:1685033; LYSTC: 765
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 192
Feature /change: L -> FNIVSX
Diagnosis Chediak-Higashi syndrome
Symptoms Lung abscess; White blonde hair; Pale skin; Light blue
Symptoms eyes; Astigmatism; Microstrabism; Cataract; High grade
Symptoms myopia; Recurrent hematomas; Global developmental
Symptoms delay; Impaired chemotaxis; Pneumonia;
Age 4.5
Sex XY
Ethnic origin Germany
Parents Consanguineous
//
ID #E489X566(1),#E489X566(1); standard; MUTATION;
Accession C0007
Systematic name Allele 1 and 2: g.58575delG, c.1656delG, p.E489fsX566
Original code Patient 1
Description Allele 1 and 2: deletion in the exon 5 leading to a
Description premature stop codon
Date 20-May-2003 (Rel. 1, Created)
Date 20-May-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8896560
RefAuthors Nagle, D. L., Karim, M. A., Woolf, E. A., Holmgren, L.,
RefAuthors Bork, P., Misumi, D. J., McGrail, S. H., Dussault, B. J.,
RefAuthors Perou, C. M., Boissy, R. E., Duyk, G. M., Spritz, R. A.,
RefAuthors Moore, K. J.
RefTitle Identification and mutation analysis of the complete gene
RefTitle for chediak-higashi syndrome.
RefLoc Nat Genet 14:307-311 (1996)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 58575
Feature /change: -g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 1656
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 489
Feature /change: E
Feature /change: -> DNFIIRCVQE KGTDDVNILI LCIITEISQV FWFRLLKTRF
Feature /change: PKTHLKRLQM EMFIILSGAV ALQCVPISAC AYYSRLPX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 58575
Feature /change: -g
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 1656
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 489
Feature /change: E
Feature /change: -> DNFIIRCVQE KGTDDVNILI LCIITEISQV FWFRLLKTRF
Feature /change: PKTHLKRLQM EMFIILSGAV ALQCVPISAC AYYSRLPX
Diagnosis CHS childhood type
Sex XY
Ethnic origin Caucasoid
Parents Consanguineous
//
ID R514X(1),#F3298X3304(1); standard; MUTATION; ,BEACH
Accession C0031
Systematic name Allele 1: g.58648C>T, c.1540C>T, r.1540c>u, p.Arg514X
Systematic name Allele 2: g.155837delT, c.9893delT, r.9893delu,
Systematic name p.Phe3298fsX7
Original code 7-month-old male
Description Allele 1: a point mutation in the exon 5 leading to a
Description premature stop codon
Description Allele 2: a frame shift deletion in the exon 43 leading to
Description a premature stop codon in the BEACH domain
Date 23-Jun-2005 (Rel. 1, Created)
Date 23-Jun-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15896657
RefAuthors Zarzour, W., Kleta, R., Frangoul, H., Suwannarat, P.,
RefAuthors Jeong, A., Kim, S. Y., Wayne, A. S., Gunay-Aygun, M.,
RefAuthors White, J., Filipovich, A. H., Gahl, W. A.
RefTitle Two novel CHS1 (LYST) mutations: clinical correlations in
RefTitle an infant with chediak-higashi syndrome.
RefLoc Mol Genet Metab 85:125-132 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0020: 58648
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0020: 1729
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 514
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 155837
Feature /change: -t
Feature /genomic_region: exon; 43
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 10082
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 3298
Feature /change: F -> SIFQSSX
Feature /domain: BEACH
Diagnosis Chediak-Higashi syndrome
Symptoms Others:
Symptoms bronchiolitis, one upper respiratory infection
Sex XY
Ethnic origin Caucasoid; Colombia
Comment Patient appear to undergo succesful reversal of the
Comment hematological manifestations of his CHS after an unrelated
Comment donor SCT
//
ID @A635X638(1),@A635X638(1); standard; MUTATION;
Accession C0005
Systematic name Allele 1 and 2: g.59010_59011insA, c.2091_2092insA,
Systematic name p.A635fsX638
Original code Patient 1
Description Allele 1 and 2: insertion in the exon 5 leading to a
Description premature stop codon
Date 20-May-2003 (Rel. 1, Created)
Date 20-May-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9215679
RefAuthors Karim, M. A., Nagle, D. L., Kandil, H. H., Burger, J.,
RefAuthors Moore, K. J., Spritz, R. A.
RefTitle Mutations in the chediak-higashi syndrome gene (CHS1)
RefTitle indicate requirement for the complete 3801 amino acid CHS
RefTitle protein.
RefLoc Hum Mol Genet 6:1087-1089 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0020: 59011
Feature /change: +a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 2092
Feature /note: there is a cluster of six adenines and insertion
Feature /note: may be at any place between nucleotides 2085 and
Feature /note: 2092
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 635
Feature /change: A -> SSLX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0020: 59011
Feature /change: +a
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 2092
Feature /note: there is a cluster of six adenines and insertion
Feature /note: may be at any place between nucleotides 2085 and
Feature /note: 2092
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 635
Feature /change: A -> SSLX
Diagnosis CHS childhood type
Symptoms Physical findings:
Symptoms Lymphadenopathy; Hepatosplenomegaly;
Symptoms Others:
Symptoms Neutropenia, mild thrombocytopenia, low serum IgG
Sex XY
Ethnic origin Kuwait; Bedouin
Parents Consanguineous
//
ID #K818X823(1),?; standard; MUTATION;
Accession C0018
Systematic name Allele 1: g.61244delA, c.2643delA, p.K818fsX823
Original code Patient 2
Description Allele 1: deletion in the exon 6 leading to a
Description premature stop codon
Date 02-Jun-2003 (Rel. 1, Created)
Date 02-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11857544
RefAuthors Karim, M. A., Suzuki, K., Fukai, K., Oh, J., Nagle, D. L.,
RefAuthors Moore, K. J., Barbosa, E., Falik-Borenstein, T.,
RefAuthors Filipovich, A., Ishida, Y., Kivrikko, S., Klein, C.,
RefAuthors Kreuz, F., Levin, A., Miyajima, H., Regueiro, J., Russo,
RefAuthors C., Uyama, E., Vierimaa, O., Spritz, R. A.
RefTitle Apparent genotype-phenotype correlation in childhood,
RefTitle adolescent, and adult chediak-higashi syndrome.
RefLoc Am J Med Genet 108:16-22 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 61244
Feature /change: -a
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 2643
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 818
Feature /change: K -> KHLKLX
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
Diagnosis CHS childhood type
Ethnic origin Mixed North European
Parents Non-consanguineous
//
ID #F874X898(1),#F874X898(1); standard; MUTATION;
Accession C0010
Systematic name Allele 1 and 2: g.61410delT, c.2809delT, p.F874fsX898
Original code Patient 1
Description Allele 1 and 2: deletion in the exon 6 leading to a
Description premature stop codon
Date 27-May-2003 (Rel. 1, Created)
Date 27-May-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10648412
RefAuthors Certain, S., Barrat, F., Pastural, E., Le Deist, F., Goyo-
RefAuthors Rivas, J., Jabado, N., Benkerrou, M., Seger, R., Vilmer,
RefAuthors E., Beullier, G., Schwarz, K., Fischer, A., de Saint
RefAuthors Basile, G.
RefTitle Protein truncation test of LYST reveals heterogenous
RefTitle mutations in patients with chediak-higashi syndrome.
RefLoc Blood 95:979-983 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 61410
Feature /change: -t
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 2809
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 874
Feature /change: F -> FMLASKKLIQ RDGRLLTKMF ISTQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 61410
Feature /change: -t
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 2809
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 874
Feature /change: F -> FMLASKKLIQ RDGRLLTKMF ISTQX
Diagnosis Chediak-Higashi syndrome
Symptoms Infections:
Symptoms EBV infection; Fever;
Symptoms Physical findings:
Symptoms Hepatosplenomegaly; Pancytopenia;
Symptoms Others:
Symptoms hypertriglyceridemia, fibrinopenia, precence of the
Symptoms mononuclear cells in the cerebrospinal fluid
Age 5,5
Parents Non-consanguineous
Treatment Bone marrow transplantation: Yes
Treatment Outcome
Treatment BMT-related problems: death
//
ID #F874X898(2),#F874X898(2); standard; MUTATION;
Accession C0016
Systematic name Allele 1 and 2: g.61410delT, c.2809delT, p.F874fsX898
Original code VA
Description Allele 1 and 2: deletion in the exon 6 leading to a
Description premature stop codon
Date 27-May-2003 (Rel. 1, Created)
Date 27-May-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10482950
RefAuthors Dufourcq-Lagelouse, R., Lambert, N., Duval, M., Viot, G.,
RefAuthors Vilmer, E., Fischer, A., Prieur, M., de Saint Basile, G.
RefTitle Chediak-higashi syndrome associated with maternal
RefTitle uniparental isodisomy of chromosome 1.
RefLoc Eur J Hum Genet 7:633-637 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 61410
Feature /change: -t
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 2809
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 874
Feature /change: F -> FMLASKKLIQ RDGRLLTKMF ISTQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 61410
Feature /change: -t
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 2809
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 874
Feature /change: F -> FMLASKKLIQ RDGRLLTKMF ISTQX
Diagnosis Chediak-Higashi syndrome
Symptoms Infections:
Symptoms Fever;
Symptoms Physical findings:
Symptoms Lymphadenopathy; Hepatosplenomegaly; Pancytopenia;
Symptoms Coagulation disorder
Symptoms Others:
Symptoms oedema, infiltration of most organs by lymphocytes and
Symptoms histiocytes
Age 5 1/2
Sex XY
Parents Non-consanguineous
Treatment Bone marrow transplantation: Yes
Treatment Outcome
Treatment BMT-related problems: death, veino-occlusive disease
//
ID #N1025X1030(1),?; standard; MUTATION;
Accession C0002
Systematic name Allele 1: g.61863_61864delAA, c.3262_3263delAA,
Systematic name p.N1025fsX1030
Original code Patient 369
Description Allele 1: deletion in the exon 6 leading to a
Description premature stop codon
Date 20-May-2003 (Rel. 1, Created)
Date 20-May-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9215680
RefAuthors Barbosa, M. D., Barrat, F. J., Tchernev, V. T., Nguyen, Q.
RefAuthors A., Mishra, V. S., Colman, S. D., Pastural, E., Dufourcq-
RefAuthors Lagelouse, R., Fischer, A., Holcombe, R. F., Wallace, M.
RefAuthors R., Brandt, S. J., de Saint Basile, G., Kingsmore, S. F.
RefTitle Identification of mutations in two major mRNA isoforms of
RefTitle the chediak-higashi syndrome gene in human and mouse.
RefLoc Hum Mol Genet 6:1091-1098 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 61863..61864
Feature /change: -aa
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 3262..3263
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 1025
Feature /change: N -> QNFSTX
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
Diagnosis Chediak-Higashi syndrome
Parents Non-consanguineous
//
ID Q1029X(1),Q1029X(1); standard; MUTATION;
Accession C0003
Systematic name Allele 1 and 2: g.61875C>T, c.3274C>T, p.Q1029X
Original code Patient 370
Description Allele 1 and 2: point mutation in the exon 6 leading to a
Description premature stop codon
Date 20-May-2003 (Rel. 1, Created)
Date 20-May-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9215680
RefAuthors Barbosa, M. D., Barrat, F. J., Tchernev, V. T., Nguyen, Q.
RefAuthors A., Mishra, V. S., Colman, S. D., Pastural, E., Dufourcq-
RefAuthors Lagelouse, R., Fischer, A., Holcombe, R. F., Wallace, M.
RefAuthors R., Brandt, S. J., de Saint Basile, G., Kingsmore, S. F.
RefTitle Identification of mutations in two major mRNA isoforms of
RefTitle the chediak-higashi syndrome gene in human and mouse.
RefLoc Hum Mol Genet 6:1091-1098 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0020: 61875
Feature /change: c -> t
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0020: 3274
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 1029
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0020: 61875
Feature /change: c -> t
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0020: 3274
Feature /codon: caa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 1029
Feature /change: Q -> X
Diagnosis Chediak-Higashi syndrome
Parents Non-consanguineous
//
ID R1104X(1),R1104X(1); standard; MUTATION;
Accession C0008
Systematic name Allele 1 and 2: g.62100C>T, c.3499C>T, p.R1104X
Original code Patient 2
Description Allele 1 and 2: point mutation in the exon 6 leading to a
Description premature stop codon
Date 20-May-2003 (Rel. 1, Created)
Date 20-May-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8896560
RefAuthors Nagle, D. L., Karim, M. A., Woolf, E. A., Holmgren, L.,
RefAuthors Bork, P., Misumi, D. J., McGrail, S. H., Dussault, B. J.,
RefAuthors Perou, C. M., Boissy, R. E., Duyk, G. M., Spritz, R. A.,
RefAuthors Moore, K. J.
RefTitle Identification and mutation analysis of the complete gene
RefTitle for chediak-higashi syndrome.
RefLoc Nat Genet 14:307-311 (1996)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0020: 62100
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0020: 3499
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 1104
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0020: 62100
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0020: 3499
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 1104
Feature /change: R -> X
Diagnosis CHS adult type
Symptoms Mental retardation
Symptoms Others:
Symptoms Recurrent skin infections
Sex XY
Ethnic origin Caucasoid
Parents Consanguineous
//
ID R1104X(2),R1104X(2); standard; MUTATION;
Accession C0011
Systematic name Allele 1 and 2: g.62100C>T, c.3499C>T, p.R1104X
Original code Patient 2
Description Allele 1 and 2: point mutation in the exon 6 leading to a
Description premature stop codon
Date 27-May-2003 (Rel. 1, Created)
Date 27-May-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10648412
RefAuthors Certain, S., Barrat, F., Pastural, E., Le Deist, F., Goyo-
RefAuthors Rivas, J., Jabado, N., Benkerrou, M., Seger, R., Vilmer,
RefAuthors E., Beullier, G., Schwarz, K., Fischer, A., de Saint
RefAuthors Basile, G.
RefTitle Protein truncation test of LYST reveals heterogenous
RefTitle mutations in patients with chediak-higashi syndrome.
RefLoc Blood 95:979-983 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0020: 62100
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0020: 3499
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 1104
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0020: 62100
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0020: 3499
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 1104
Feature /change: R -> X
Diagnosis Chediak-Higashi syndrome
Symptoms Infections:
Symptoms EBV infection; Fever;
Symptoms Physical findings:
Symptoms Hepatosplenomegaly; Pancytopenia;
Symptoms Others:
Symptoms hypertriglyceridemia, fibrinopenia, low intellectual
Symptoms capacity (QD=80), precence of the mononuclear cells in
Symptoms the cerebrospinal fluid
Age 2,5
Parents Consanguineous
Treatment Bone marrow transplantation: Yes
Comment -!-Accelerated phase was less severe. Essentially it
Comment -!-consisted of hepatosplenomegaly and mild leucopenia
Comment -!-that remained stable without treatment during the 6
Comment -!-months preceding succesful BMT.
//
ID @H1145X1153(1),?; standard; MUTATION;
Accession C0019
Systematic name Allele 1: g.63300_63301insA, c.3622_3623insA,
Systematic name p.H1145fsX1153
Original code Patient 3
Description Allele 1: insertion in the exon 7 leading to a
Description premature stop codon
Date 02-Jun-2003 (Rel. 1, Created)
Date 02-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11857544
RefAuthors Karim, M. A., Suzuki, K., Fukai, K., Oh, J., Nagle, D. L.,
RefAuthors Moore, K. J., Barbosa, E., Falik-Borenstein, T.,
RefAuthors Filipovich, A., Ishida, Y., Kivrikko, S., Klein, C.,
RefAuthors Kreuz, F., Levin, A., Miyajima, H., Regueiro, J., Russo,
RefAuthors C., Uyama, E., Vierimaa, O., Spritz, R. A.
RefTitle Apparent genotype-phenotype correlation in childhood,
RefTitle adolescent, and adult chediak-higashi syndrome.
RefLoc Am J Med Genet 108:16-22 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0020: 63301
Feature /change: +a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 3623
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 1145
Feature /change: H -> QSFPVKGDX
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
Diagnosis CHS childhood type
Ethnic origin Caucasoid; U.S.
Parents Non-consanguineous
//
ID Q1208X(1),E3668X(1); standard; MUTATION;
Accession C0036
Systematic name Allele 1: g.64928C>T, c.3622C>T, r.3622c>u, p.Gln1208X
Systematic name Allele 2: g.190799G>T, c.11002G>T, r.11002g>u, p.Glu3668X
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 exon 50 leading to a
Description premature stop codon
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20368792
RefAuthors Morrone, K., Wang, Y., Huizing, M., Sutton, E., White, J.
RefAuthors G., Gahl, W. A., Moody, K.
RefTitle Two novel mutations identified in an african-american
RefTitle child with chediak-higashi syndrome.
RefLoc Case Report Med:967535 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0020: 64928
Feature /change: c -> t
Feature /genomic_region: exon; 50
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0020; GI:1685033; LYSTC: 3811
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 1208
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0020: 190799
Feature /change: g -> t
Feature /genomic_region: exon; 50
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0020; GI:1685033; LYSTC: 11191
Feature /codon: gaa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 3668
Feature /change: E -> X
Diagnosis Chediak-Higashi syndrome
Symptoms Infections:
Symptoms Fever;
Symptoms Decreased activity; Increased sleepiness; Irritability;
Symptoms Silvery hair; blue eyes; pale skin; Sepsis;
Age 16 mo
Sex XX
Ethnic origin African-American
//
ID S1351X(1),?; standard; MUTATION;
Accession C0020
Systematic name Allele 1: g.74359C>G, c.4241C>G, p.S1351X
Original code Patient 4
Description Allele 1: point mutation in the exon 11 leading to a
Description premature stop codon
Date 02-Jun-2003 (Rel. 1, Created)
Date 02-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11857544
RefAuthors Karim, M. A., Suzuki, K., Fukai, K., Oh, J., Nagle, D. L.,
RefAuthors Moore, K. J., Barbosa, E., Falik-Borenstein, T.,
RefAuthors Filipovich, A., Ishida, Y., Kivrikko, S., Klein, C.,
RefAuthors Kreuz, F., Levin, A., Miyajima, H., Regueiro, J., Russo,
RefAuthors C., Uyama, E., Vierimaa, O., Spritz, R. A.
RefTitle Apparent genotype-phenotype correlation in childhood,
RefTitle adolescent, and adult chediak-higashi syndrome.
RefLoc Am J Med Genet 108:16-22 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0020: 74359
Feature /change: c -> g
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0020: 4241
Feature /codon: tca -> tga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 1351
Feature /change: S -> X
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
Diagnosis CHS childhood type
Ethnic origin Caucasoid; Mexico
Parents Non-consanguineous
//
ID #L1425X1426(1),E2810K(1); standard; MUTATION;
Accession C0023
Systematic name Allele 1: g.75958delT, c.4463delT, p.L1425fsX1426
Systematic name Allele 2: g.133336G>A, c.8617G>A, p.E2810K
Original code Patient 12
Description Allele 1: deletion in the exon 12 leading to a premature
Description stop codon
Description Allele 2: point mutation in the exon 32 leading to an
Description amino acid change
Date 02-Jun-2003 (Rel. 1, Created)
Date 02-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11857544
RefAuthors Karim, M. A., Suzuki, K., Fukai, K., Oh, J., Nagle, D. L.,
RefAuthors Moore, K. J., Barbosa, E., Falik-Borenstein, T.,
RefAuthors Filipovich, A., Ishida, Y., Kivrikko, S., Klein, C.,
RefAuthors Kreuz, F., Levin, A., Miyajima, H., Regueiro, J., Russo,
RefAuthors C., Uyama, E., Vierimaa, O., Spritz, R. A.
RefTitle Apparent genotype-phenotype correlation in childhood,
RefTitle adolescent, and adult chediak-higashi syndrome.
RefLoc Am J Med Genet 108:16-22 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 75958
Feature /change: -t
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 4463
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 1425
Feature /change: L -> YX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0020: 133336
Feature /change: g -> a
Feature /genomic_region: exon; 32
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0020: 8617
Feature /codon: gag -> aag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q99698; LYST_HUMAN: 2810
Feature /change: E -> K
Diagnosis CHS adolescent type
Symptoms Others:
Symptoms Patient has an unusual adolescent CHS phenotype of
Symptoms intermediate severity, with hypopigmentation,
Symptoms neutropenia, and recurrent serious bacterial infections
Symptoms as a young child but not during adolescent, and neither
Symptoms accelerated phase nor neurological manifestations of
Symptoms CHS.
Ethnic origin Caucasoid; U.S.
Parents Non-consanguineous
//
ID Y1687X(1),A1454D(1); standard; MUTATION;
Accession C0024
Systematic name Allele 1: g.86908T>A, c.5250T>A, p.Y1687X
Systematic name Allele 2: g.76045C>A, c.4550C>A, p.A1454D
Original code Patient 13
Description Allele 1: point mutation in the exon 16 leading to a
Description premature stop codon
Description Allele 2: point mutation in the exon 12 leading to an
Description amino acid change
Date 02-Jun-2003 (Rel. 1, Created)
Date 02-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11857544
RefAuthors Karim, M. A., Suzuki, K., Fukai, K., Oh, J., Nagle, D. L.,
RefAuthors Moore, K. J., Barbosa, E., Falik-Borenstein, T.,
RefAuthors Filipovich, A., Ishida, Y., Kivrikko, S., Klein, C.,
RefAuthors Kreuz, F., Levin, A., Miyajima, H., Regueiro, J., Russo,
RefAuthors C., Uyama, E., Vierimaa, O., Spritz, R. A.
RefTitle Apparent genotype-phenotype correlation in childhood,
RefTitle adolescent, and adult chediak-higashi syndrome.
RefLoc Am J Med Genet 108:16-22 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0020: 86908
Feature /change: t -> a
Feature /genomic_region: exon; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0020: 5250
Feature /codon: tat -> taa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 1687
Feature /change: Y -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0020: 76045
Feature /change: c -> a
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0020: 4550
Feature /codon: gcc -> gac; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q99698; LYST_HUMAN: 1454
Feature /change: A -> D
Diagnosis CHS adolescent type
Symptoms Others:
Symptoms Patient has an unusual adolescent CHS phenotype with
Symptoms hypopigmentation, only one severe childhood infection,
Symptoms no accelerated phase, dull normal intelligence, with
Symptoms slow, widw-based gait.
Ethnic origin Caucasoid; U.S.
Parents Non-consanguineous
Comment The A1454D mutation was in trans to another substitution
Comment that is nonpathological polymorphism A4391T (N1454),
Comment common among U.S. Caucasians. The same mutations was found
Comment in the patient's similarly affected teenaged brother.
//
ID R1563H(1),R1563H(1); standard; MUTATION;
Accession C0025
Systematic name Allele 1 and 2: g.79225G>A, c.4877G>A, p.R1563H
Original code Patient 14
Description Allele 1 and 2: point mutation in the exon 13 leading to
Description an amino acid change
Date 02-Jun-2003 (Rel. 1, Created)
Date 02-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11857544
RefAuthors Karim, M. A., Suzuki, K., Fukai, K., Oh, J., Nagle, D. L.,
RefAuthors Moore, K. J., Barbosa, E., Falik-Borenstein, T.,
RefAuthors Filipovich, A., Ishida, Y., Kivrikko, S., Klein, C.,
RefAuthors Kreuz, F., Levin, A., Miyajima, H., Regueiro, J., Russo,
RefAuthors C., Uyama, E., Vierimaa, O., Spritz, R. A.
RefTitle Apparent genotype-phenotype correlation in childhood,
RefTitle adolescent, and adult chediak-higashi syndrome.
RefLoc Am J Med Genet 108:16-22 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0020: 79225
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0020: 4877
Feature /codon: cgt -> cat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q99698; LYST_HUMAN: 1563
Feature /change: R -> H
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0020: 79225
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0020: 4877
Feature /codon: cgt -> cat; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q99698; LYST_HUMAN: 1563
Feature /change: R -> H
Diagnosis CHS adult type
Symptoms Others:
Symptoms no history of infections or accelerated phase, but
Symptoms various neurological symptoms
Ethnic origin Mongoloid; Japan
Parents Consanguineous
//
ID #G1668X1696(1),#G1668X1696(1); standard; MUTATION;
Accession C0033
Systematic name Allele 1 and 2: g.85980delA, c.5004delA, r.5004dela,
Systematic name p.Asn1669fsX28
Original code P.2
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 15 leading to a premature stop codon
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19650863
RefAuthors Scherber, E., Beutel, K., Ganschow, R., Schulz, A., Janka,
RefAuthors G., Stadt, U.
RefTitle Molecular analysis and clinical aspects of four patients
RefTitle with chédiak-higashi syndrome (CHS).
RefLoc Clin Genet:409-412 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 85980
Feature /change: -a
Feature /genomic_region: exon; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020; GI:1685033; LYSTC: 5193
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 1668
Feature /change: G -> GICFSSTELR LVHKRPFICM LVDPTIHLX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 85980
Feature /change: -a
Feature /genomic_region: exon; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020; GI:1685033; LYSTC: 5193
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 1668
Feature /change: G -> GICFSSTELR LVHKRPFICM LVDPTIHLX
Diagnosis Chediak-Higashi syndrome
Symptoms Dark grey-silvery hair; Pale skin; Brown eyes;
Symptoms Astigmatism; Microstrabism; Hyperopia; Amblyopia;
Age 1
Sex XY
Ethnic origin Saudi Arabia
Parents Consanguineous
Treatment Bone marrow transplantation: Yes
Treatment Outcome: alive
//
ID #R1773X1785(1),Insertion(1); standard; MUTATION;
Accession C0029
Systematic name Allele 1: g.90720delA, c.5506delA, p.R1773fsX1785
Original code Patient 5
Description Allele 1: deletion in the exon 17 leading to a premature
Description stop codon
Description Allele 2: frameshift insertion in the exon 39
Date 03-Jun-2003 (Rel. 1, Created)
Date 03-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10648412
RefAuthors Certain, S., Barrat, F., Pastural, E., Le Deist, F., Goyo-
RefAuthors Rivas, J., Jabado, N., Benkerrou, M., Seger, R., Vilmer,
RefAuthors E., Beullier, G., Schwarz, K., Fischer, A., de Saint
RefAuthors Basile, G.
RefTitle Protein truncation test of LYST reveals heterogenous
RefTitle mutations in patients with chediak-higashi syndrome.
RefLoc Blood 95:979-983 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 90720
Feature /change: -a
Feature /genomic_region: exon; 17
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 5506
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 1773
Feature /change: R -> DPSAQKKFRA SYX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0020: 143811
Feature /change: +10bp
Feature /genomic_region: exon; 39
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 9417
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Feature /note: truncated at position 3210
Diagnosis Chediak-Higashi syndrome
Sex XY
Relative LYSTbase; C0030; sister
//
ID #R1773X1785(1),Insertion(1); standard; MUTATION;
Accession C0030
Systematic name Allele 1: g.90720delA, c.5506delA, p.R1773fsX1785
Original code Patient 6
Description Allele 1: deletion in the exon 17 leading to a premature
Description stop codon
Description Allele 2: frameshift insertion in the exon 39
Date 03-Jun-2003 (Rel. 1, Created)
Date 03-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10648412
RefAuthors Certain, S., Barrat, F., Pastural, E., Le Deist, F., Goyo-
RefAuthors Rivas, J., Jabado, N., Benkerrou, M., Seger, R., Vilmer,
RefAuthors E., Beullier, G., Schwarz, K., Fischer, A., de Saint
RefAuthors Basile, G.
RefTitle Protein truncation test of LYST reveals heterogenous
RefTitle mutations in patients with chediak-higashi syndrome.
RefLoc Blood 95:979-983 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 90720
Feature /change: -a
Feature /genomic_region: exon; 17
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 5506
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 1773
Feature /change: R -> DPSAQKKFRA SYX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0020: 143811
Feature /change: +10bp
Feature /genomic_region: exon; 39
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 9417
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Feature /note: truncated at position 3210
Diagnosis Chediak-Higashi syndrome
Sex XX
Relative LYSTbase; C0029; brother
//
ID #S1840X1841(1),#S1840X1841(1); standard; MUTATION;
Accession C0034
Systematic name Allele 1 and 2: g.92898delC, c.5519delC, r.5519delc,
Systematic name p.Ser1840fsX2
Original code P.3
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 18 leading to a premature stop codon
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19650863
RefAuthors Scherber, E., Beutel, K., Ganschow, R., Schulz, A., Janka,
RefAuthors G., Stadt, U.
RefTitle Molecular analysis and clinical aspects of four patients
RefTitle with chédiak-higashi syndrome (CHS).
RefLoc Clin Genet:409-412 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 92898
Feature /change: -c
Feature /genomic_region: exon; 18
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020; GI:1685033; LYSTC: 5708
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 1840
Feature /change: S -> YX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 92898
Feature /change: -c
Feature /genomic_region: exon; 18
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020; GI:1685033; LYSTC: 5708
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 1840
Feature /change: S -> YX
Diagnosis Chediak-Higashi syndrome
Symptoms Hepatosplenomegaly; EBV infection; Black-silvery hair;
Symptoms Pale skin; Brown eyes; Partial ocular albinism;
Symptoms Subdural hematoma; Speech developmental delay;
Symptoms Impaired chemotaxis;
Age 3.5
Sex XY
Ethnic origin Afghanistan
Parents Consanguineous
//
ID V1999D(1),V1999D(1); standard; MUTATION;
Accession C0026
Systematic name Allele 1 and 2: g.101722T>A, c.6185T>A, p.V1999D
Original code Patient 15
Description Allele 1 and 2: point mutation in the exon 21 leading to
Description an amino acid change
Date 02-Jun-2003 (Rel. 1, Created)
Date 02-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11857544
RefAuthors Karim, M. A., Suzuki, K., Fukai, K., Oh, J., Nagle, D. L.,
RefAuthors Moore, K. J., Barbosa, E., Falik-Borenstein, T.,
RefAuthors Filipovich, A., Ishida, Y., Kivrikko, S., Klein, C.,
RefAuthors Kreuz, F., Levin, A., Miyajima, H., Regueiro, J., Russo,
RefAuthors C., Uyama, E., Vierimaa, O., Spritz, R. A.
RefTitle Apparent genotype-phenotype correlation in childhood,
RefTitle adolescent, and adult chediak-higashi syndrome.
RefLoc Am J Med Genet 108:16-22 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0020: 101722
Feature /change: t -> a
Feature /genomic_region: exon; 21
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0020: 6185
Feature /codon: gtc -> gac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q99698; LYST_HUMAN: 1999
Feature /change: V -> D
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0020: 101722
Feature /change: t -> a
Feature /genomic_region: exon; 21
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0020: 6185
Feature /codon: gtc -> gac; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q99698; LYST_HUMAN: 1999
Feature /change: V -> D
Diagnosis CHS adult type
Symptoms Others:
Symptoms no history of infections or accelerated phase, but
Symptoms various neurological symptoms
Ethnic origin Mongoloid; Japan
Parents Consanguineous
//
ID Y2026X(1),Y2026X(1); standard; MUTATION;
Accession C0021
Systematic name Allele 1 and 2: g.101804C>A, c.6267C>A, p.Y2026X
Original code Patient 5
Description Allele 1 and 2: point mutation in the exon 21 leading to a
Description premature stop codon
Date 02-Jun-2003 (Rel. 1, Created)
Date 02-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11857544
RefAuthors Karim, M. A., Suzuki, K., Fukai, K., Oh, J., Nagle, D. L.,
RefAuthors Moore, K. J., Barbosa, E., Falik-Borenstein, T.,
RefAuthors Filipovich, A., Ishida, Y., Kivrikko, S., Klein, C.,
RefAuthors Kreuz, F., Levin, A., Miyajima, H., Regueiro, J., Russo,
RefAuthors C., Uyama, E., Vierimaa, O., Spritz, R. A.
RefTitle Apparent genotype-phenotype correlation in childhood,
RefTitle adolescent, and adult chediak-higashi syndrome.
RefLoc Am J Med Genet 108:16-22 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0020: 101804
Feature /change: c -> a
Feature /genomic_region: exon; 21
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0020: 6267
Feature /codon: tac -> taa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 2026
Feature /change: Y -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0020: 101804
Feature /change: c -> a
Feature /genomic_region: exon; 21
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0020: 6267
Feature /codon: tac -> taa; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 2026
Feature /change: Y -> X
Diagnosis CHS childhood type
Ethnic origin Caucasoid; Finland
Parents Consanguineous
//
ID Y2026X(2),Y2026X(2); standard; MUTATION;
Accession C0022
Systematic name Allele 1 and 2: g.101804C>A, c.6267C>A, p.Y2026X
Original code Patient 6
Description Allele 1 and 2: point mutation in the exon 21 leading to a
Description premature stop codon
Date 02-Jun-2003 (Rel. 1, Created)
Date 02-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11857544
RefAuthors Karim, M. A., Suzuki, K., Fukai, K., Oh, J., Nagle, D. L.,
RefAuthors Moore, K. J., Barbosa, E., Falik-Borenstein, T.,
RefAuthors Filipovich, A., Ishida, Y., Kivrikko, S., Klein, C.,
RefAuthors Kreuz, F., Levin, A., Miyajima, H., Regueiro, J., Russo,
RefAuthors C., Uyama, E., Vierimaa, O., Spritz, R. A.
RefTitle Apparent genotype-phenotype correlation in childhood,
RefTitle adolescent, and adult chediak-higashi syndrome.
RefLoc Am J Med Genet 108:16-22 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0020: 101804
Feature /change: c -> a
Feature /genomic_region: exon; 21
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0020: 6267
Feature /codon: tac -> taa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 2026
Feature /change: Y -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0020: 101804
Feature /change: c -> a
Feature /genomic_region: exon; 21
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0020: 6267
Feature /codon: tac -> taa; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 2026
Feature /change: Y -> X
Diagnosis CHS childhood type
Ethnic origin Caucasoid; Finland
//
ID #L2354X2369(1),#L2354X2369(1); standard; MUTATION;
Accession C0013
Systematic name Allele 1 and 2: g.112279_112285delCTATTAG,
Systematic name c.7249_7255delCTATTAG, p.L2354fsX2369
Original code Patient 4
Description Allele 1 and 2: deletion in the exon 25 leading to a
Description premature stop codon
Date 27-May-2003 (Rel. 1, Created)
Date 27-May-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10648412
RefAuthors Certain, S., Barrat, F., Pastural, E., Le Deist, F., Goyo-
RefAuthors Rivas, J., Jabado, N., Benkerrou, M., Seger, R., Vilmer,
RefAuthors E., Beullier, G., Schwarz, K., Fischer, A., de Saint
RefAuthors Basile, G.
RefTitle Protein truncation test of LYST reveals heterogenous
RefTitle mutations in patients with chediak-higashi syndrome.
RefLoc Blood 95:979-983 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 112279..112285
Feature /change: -ctattag
Feature /genomic_region: exon; 25
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 7249..7255
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 2354..2356
Feature /change: LLD -> MHILLEHLRN KKINFX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 112279..112285
Feature /change: -ctattag
Feature /genomic_region: exon; 25
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 7249..7255
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 2354..2356
Feature /change: LLD -> MHILLEHLRN KKINFX
Diagnosis Chediak-Higashi syndrome
Symptoms Infections:
Symptoms EBV infection; Fever;
Symptoms Mental retardation
Symptoms Physical findings:
Symptoms Hepatosplenomegaly; Pancytopenia;
Symptoms Others:
Symptoms hypertriglyceridemia, fibrinopenia, precence of
Symptoms mononuclear cells in the cerebrospinal fluid, poor
Symptoms performance at school
Age 1,6
Parents Consanguineous
Treatment Bone marrow transplantation: Yes
Treatment Outcome: alive and well
Comment -!-After 11 years after BMT the total disappearance of
Comment -!-donor cells was observed and the patient died of a new
Comment -!-accelerated phase before a second BMT could be
Comment -!-performed.
//
ID #Y2519X2528(1),#Y2519X2528(1); standard; MUTATION;
Accession C0012
Systematic name Allele 1 and 2: g.115849delT, c.7744delT, p.Y2519fsX2528
Original code Patient 3
Description Allele 1 and 2: deletion in the exon 27 leading to a
Description premature stop codon
Date 27-May-2003 (Rel. 1, Created)
Date 27-May-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10648412
RefAuthors Certain, S., Barrat, F., Pastural, E., Le Deist, F., Goyo-
RefAuthors Rivas, J., Jabado, N., Benkerrou, M., Seger, R., Vilmer,
RefAuthors E., Beullier, G., Schwarz, K., Fischer, A., de Saint
RefAuthors Basile, G.
RefTitle Protein truncation test of LYST reveals heterogenous
RefTitle mutations in patients with chediak-higashi syndrome.
RefLoc Blood 95:979-983 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 115849
Feature /change: -t
Feature /genomic_region: exon; 27
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 7744
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 2519
Feature /change: Y -> ILGLLKTLLX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 115849
Feature /change: -t
Feature /genomic_region: exon; 27
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 7744
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 2519
Feature /change: Y -> ILGLLKTLLX
Diagnosis Chediak-Higashi syndrome
Symptoms Infections:
Symptoms Fever;
Symptoms Mental retardation
Symptoms Physical findings:
Symptoms Hepatosplenomegaly; Pancytopenia;
Symptoms Others:
Symptoms hypertriglyceridemia, fibrinopenia, precence of
Symptoms mononuclear cells in the cerebrospinal fluid
Age 14
Parents Consanguineous
//
ID W2861X(1a),?; standard; MUTATION;
Accession C0027
Systematic name Allele 1: g.134067G>A, c.8772G>A, p.W2861X
Original code Patient 16
Description Allele 1: point mutation in the exon 33 leading to a
Description premature stop codon
Date 02-Jun-2003 (Rel. 1, Created)
Date 02-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11857544
RefAuthors Karim, M. A., Suzuki, K., Fukai, K., Oh, J., Nagle, D. L.,
RefAuthors Moore, K. J., Barbosa, E., Falik-Borenstein, T.,
RefAuthors Filipovich, A., Ishida, Y., Kivrikko, S., Klein, C.,
RefAuthors Kreuz, F., Levin, A., Miyajima, H., Regueiro, J., Russo,
RefAuthors C., Uyama, E., Vierimaa, O., Spritz, R. A.
RefTitle Apparent genotype-phenotype correlation in childhood,
RefTitle adolescent, and adult chediak-higashi syndrome.
RefLoc Am J Med Genet 108:16-22 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0020: 134067
Feature /change: g -> a
Feature /genomic_region: exon; 33
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0020: 8772
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 2861
Feature /change: W -> X
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
Diagnosis CHS adult type
Symptoms Others:
Symptoms no history of infections or accelerated phase, but
Symptoms various neurological symptoms
Sex XX
Ethnic origin Caucasoid; Germany
Parents Non-consanguineous
Relative LYSTbase; C0028; brother
//
ID W2861X(1b),?; standard; MUTATION;
Accession C0028
Systematic name Allele 1: g.134067G>A, c.8772G>A, p.W2861X
Description Allele 1: point mutation in the exon 33 leading to a
Description premature stop codon
Date 02-Jun-2003 (Rel. 1, Created)
Date 02-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11857544
RefAuthors Karim, M. A., Suzuki, K., Fukai, K., Oh, J., Nagle, D. L.,
RefAuthors Moore, K. J., Barbosa, E., Falik-Borenstein, T.,
RefAuthors Filipovich, A., Ishida, Y., Kivrikko, S., Klein, C.,
RefAuthors Kreuz, F., Levin, A., Miyajima, H., Regueiro, J., Russo,
RefAuthors C., Uyama, E., Vierimaa, O., Spritz, R. A.
RefTitle Apparent genotype-phenotype correlation in childhood,
RefTitle adolescent, and adult chediak-higashi syndrome.
RefLoc Am J Med Genet 108:16-22 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0020: 134067
Feature /change: g -> a
Feature /genomic_region: exon; 33
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0020: 8772
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 2861
Feature /change: W -> X
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
Diagnosis CHS adult type
Symptoms Others:
Symptoms no history of infections or accelerated phase, but
Symptoms various neurological symptoms
Sex XY
Ethnic origin Caucasoid; Germany
Parents Non-consanguineous
Relative LYSTbase; C0027; sister
//
ID #G3036X3064(1),#G3036X3064(1); standard; MUTATION;
Accession C0014
Systematic name Allele 1 and 2: g.138330_138384del, c.9295_9349del,
Systematic name p.G3036fsX3064
Original code Patient 7
Description Allele 1 and 2: deletion in the exon 37 leading to a
Description premature stop codon
Date 27-May-2003 (Rel. 1, Created)
Date 27-May-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10648412
RefAuthors Certain, S., Barrat, F., Pastural, E., Le Deist, F., Goyo-
RefAuthors Rivas, J., Jabado, N., Benkerrou, M., Seger, R., Vilmer,
RefAuthors E., Beullier, G., Schwarz, K., Fischer, A., de Saint
RefAuthors Basile, G.
RefTitle Protein truncation test of LYST reveals heterogenous
RefTitle mutations in patients with chediak-higashi syndrome.
RefLoc Blood 95:979-983 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 138330..138384
Feature /change: -ggtaaatgtg gaatgtattt tgtggaagat aatgcttctg
Feature /change: atacagttga aagtt
Feature /genomic_region: exon; 37
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 9295..9349
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 3036..3054
Feature /change: GKCGMYFVED NASDTVESS
Feature /change: -> RAFRESWNQH HFPGHMKKLK KFTSVGGNX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 138330..138384
Feature /change: -ggtaaatgtg gaatgtattt tgtggaagat aatgcttctg
Feature /change: atacagttga aagtt
Feature /genomic_region: exon; 37
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 9295..9349
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 3036..3054
Feature /change: GKCGMYFVED NASDTVESS
Feature /change: -> RAFRESWNQH HFPGHMKKLK KFTSVGGNX
Diagnosis Chediak-Higashi syndrome
Symptoms Infections:
Symptoms EBV infection; Fever;
Symptoms Mental retardation
Symptoms Physical findings:
Symptoms Hepatosplenomegaly; Pancytopenia;
Symptoms Others:
Symptoms hypertriglyceridemia, fibrinopenia, low intellectual
Symptoms capacity (QD=75)
Age 2
Parents Consanguineous
Treatment No bone marrow transplantation
Comment -!-patient had a single accelerated phase at the age of 2
Comment -!-years, that resolved rapidly under specific treatment
Comment -!-without further relapsed to date of article publication
//
ID #Y3197X3258(1),#Y3197X3258(1); standard; MUTATION;
ID BEACH,BEACH
Accession C0006
Systematic name Allele 1 and 2: g.151177delA, c.9779delA, p.Y3197fsX3258
Original code Patient 2
Description Allele 1 and 2: deletion in the exon 41 leading to a
Description premature stop codon in the BEACH domain
Date 20-May-2003 (Rel. 1, Created)
Date 20-May-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9215679
RefAuthors Karim, M. A., Nagle, D. L., Kandil, H. H., Burger, J.,
RefAuthors Moore, K. J., Spritz, R. A.
RefTitle Mutations in the chediak-higashi syndrome gene (CHS1)
RefTitle indicate requirement for the complete 3801 amino acid CHS
RefTitle protein.
RefLoc Hum Mol Genet 6:1087-1089 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 151177
Feature /change: -a
Feature /genomic_region: exon; 41
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 9779
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 3197
Feature /change: Y
Feature /change: -> LKKKKIVMWT HTSTWRKSTA KEPEKMTPCL PCSPITMAPT
Feature /change: IPIAALCFTS WSGCLLSLKC FX
Feature /domain: BEACH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 151177
Feature /change: -a
Feature /genomic_region: exon; 41
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 9779
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 3197
Feature /change: Y
Feature /change: -> LKKKKIVMWT HTSTWRKSTA KEPEKMTPCL PCSPITMAPT
Feature /change: IPIAALCFTS WSGCLLSLKC FX
Feature /domain: BEACH
Diagnosis CHS childhood type
Sex XY
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
//
ID #Y3197X3258(2),#Y3197X3258(2); standard; MUTATION;
ID BEACH,BEACH
Accession C0015
Systematic name Allele 1 and 2: g.151177delA, c.9779delA, p.Y3197fsX3258
Original code Patient 8
Description Allele 1 and 2: deletion in the exon 41 leading to a
Description premature stop codon in the BEACH domain
Date 27-May-2003 (Rel. 1, Created)
Date 27-May-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10648412
RefAuthors Certain, S., Barrat, F., Pastural, E., Le Deist, F., Goyo-
RefAuthors Rivas, J., Jabado, N., Benkerrou, M., Seger, R., Vilmer,
RefAuthors E., Beullier, G., Schwarz, K., Fischer, A., de Saint
RefAuthors Basile, G.
RefTitle Protein truncation test of LYST reveals heterogenous
RefTitle mutations in patients with chediak-higashi syndrome.
RefLoc Blood 95:979-983 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 151177
Feature /change: -a
Feature /genomic_region: exon; 41
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 9779
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 3197
Feature /change: Y
Feature /change: -> LKKKKIVMWT HTSTWRKSTA KEPEKMTPCL PCSPITMAPT
Feature /change: IPIAALCFTS WSGCLLSLKC FX
Feature /domain: BEACH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 151177
Feature /change: -a
Feature /genomic_region: exon; 41
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 9779
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 3197
Feature /change: Y
Feature /change: -> LKKKKIVMWT HTSTWRKSTA KEPEKMTPCL PCSPITMAPT
Feature /change: IPIAALCFTS WSGCLLSLKC FX
Feature /domain: BEACH
Diagnosis Chediak-Higashi syndrome
Symptoms Infections:
Symptoms EBV infection; Fever;
Symptoms Mental retardation
Symptoms Physical findings:
Symptoms Hepatosplenomegaly; Pancytopenia;
Symptoms Others:
Symptoms hypertriglyceridemia, fibrinopenia
Age 1
Parents Consanguineous
Treatment Bone marrow transplantation: Yes
Treatment Outcome
Treatment BMT-related problems: death
//
ID #Y3197X3258(3),#Y3197X3258(3); standard; MUTATION;
ID BEACH,BEACH
Accession C0035
Systematic name Allele 1 and 2: g.151177delA, c.9590delA, r.9590dela,
Systematic name p.Tyr3197fsX62
Original code P.3
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 41 leading to a premature stop codon in the BEACH domain
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19650863
RefAuthors Scherber, E., Beutel, K., Ganschow, R., Schulz, A., Janka,
RefAuthors G., Stadt, U.
RefTitle Molecular analysis and clinical aspects of four patients
RefTitle with chédiak-higashi syndrome (CHS).
RefLoc Clin Genet:409-412 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 151177
Feature /change: -a
Feature /genomic_region: exon; 41
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020; GI:1685033; LYSTC: 9779
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 3197
Feature /change: Y ->
Feature /change: LKKKKIVMWT HTSTWRKSTA KEPEKMTPCL PCSPITMAPT
Feature /change: IPIAALCFTS WSGCLLSLKC FX
Feature /domain: BEACH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 151177
Feature /change: -a
Feature /genomic_region: exon; 41
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020; GI:1685033; LYSTC: 9779
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 3197
Feature /change: Y ->
Feature /change: LKKKKIVMWT HTSTWRKSTA KEPEKMTPCL PCSPITMAPT
Feature /change: IPIAALCFTS WSGCLLSLKC FX
Feature /domain: BEACH
Diagnosis Chediak-Higashi syndrome
Symptoms Amnion infection syndrome; Connatal CMV infection;
Symptoms Black-silvery hair; Grey skin; Brown eyes; Global
Symptoms developmental delay;
Age 0
Sex XY
Ethnic origin Turkey
Parents Consanguineous
Treatment Bone marrow transplantation: Yes
Treatment Outcome: Dead
//
ID #K3465X3467(1),#K3465X3467(1); standard; MUTATION;
Accession C0017
Systematic name Allele 1 and 2: g.170674delA, c.10584delA, p.K3465fsX3467
Original code Patient 1
Description Allele 1 and 2: deletion in the exon 46 leading to a
Description premature stop codon
Date 28-May-2003 (Rel. 1, Created)
Date 28-May-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11857544
RefAuthors Karim, M. A., Suzuki, K., Fukai, K., Oh, J., Nagle, D. L.,
RefAuthors Moore, K. J., Barbosa, E., Falik-Borenstein, T.,
RefAuthors Filipovich, A., Ishida, Y., Kivrikko, S., Klein, C.,
RefAuthors Kreuz, F., Levin, A., Miyajima, H., Regueiro, J., Russo,
RefAuthors C., Uyama, E., Vierimaa, O., Spritz, R. A.
RefTitle Apparent genotype-phenotype correlation in childhood,
RefTitle adolescent, and adult chediak-higashi syndrome.
RefLoc Am J Med Genet 108:16-22 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 170674
Feature /change: -a
Feature /genomic_region: exon; 46
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 10584
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 3465
Feature /change: K -> KAX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0020: 170674
Feature /change: -a
Feature /genomic_region: exon; 46
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0020: 10584
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 3465
Feature /change: K -> KAX
Diagnosis CHS childhood type
Ethnic origin Mongoloid; Japan
Parents Consanguineous
//
ID E3668X(2),E3668X(2); standard; MUTATION;
Accession C0037
Systematic name Allele 1 and 2: g.190799G>T, c.11002G>T, r.11002g>u,
Systematic name p.Glu3668X
Original code CHS-16
Description Allele 1 and 2: A point mutation in the exon 50 leading to
Description a premature stop codon
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20503323
RefAuthors Manoli, I., Golas, G., Westbroek, W., Vilboux, T.,
RefAuthors Markello, T. C., Introne, W., Maynard, D., Pederson, B.,
RefAuthors Tsilou, E., Jordan, M. B., Hart, P. S., White, J. G.,
RefAuthors Gahl, W. A., Huizing, M.
RefTitle Chediak-higashi syndrome with early developmental delay
RefTitle resulting from paternal heterodisomy of chromosome 1.
RefLoc Am J Med Genet A:1474-1483 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0020: 190799
Feature /change: g -> t
Feature /genomic_region: exon; 50
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0020; GI:1685033; LYSTC: 11191
Feature /codon: gaa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 3668
Feature /change: E -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0020: 190799
Feature /change: g -> t
Feature /genomic_region: exon; 50
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0020; GI:1685033; LYSTC: 11191
Feature /codon: gaa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q99698; LYST_HUMAN: 3668
Feature /change: E -> X
Diagnosis Chediak-Higashi syndrome
Symptoms Extensive eczema; Nystagmus; Splenomegaly;
Symptoms Occulocutaneous albinism;
Age 8 mo
Sex XY
Ethnic origin Caucasoid
Parents Non-consanguineous
//
ID F1334V(1),F1334V(1); standard; MUTATION;
Accession C0038
Systematic name Allele 1 and 2: g.67600T>G, c.4000T>G, r.4000u>g,
Systematic name p.Phe1334Val
Original code JMU-7
Description Allele 1 and 2: A point mutation in the exon 10 leading to
Description an amino acid change
Date 13-Feb-2014 (Rel. 1, Created)
Date 13-Feb-2014 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (13-Feb-2014) to LYSTbase.
RefLoc Haruo Shimazaki; Yakushiji 3311-1, Shimotsuke, Tochigi,
RefLoc 329-0498, Japan; Tel 81-285-58-7352; Fax 81-285-44-5118;
RefLoc e-mail hshimaza@jichi.ac.jp
RefNumber [1]
Reference Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation
Reference Journal of neurology, neurosurgery, and psychiatry
Reference published online 12 Feb 2014
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: LYST_DNA: 67600
Feature /change: t -> g
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U67615; GI:1685033; : 4189
Feature /codon: ttt -> gtt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: LYST_HUMAN: 1334
Feature /change: F -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: LYST_DNA: 67600
Feature /change: t -> g
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: U67615; GI:1685033; : 4189
Feature /codon: ttt -> gtt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: LYST_HUMAN: 1334
Feature /change: F -> V
Diagnosis CHS adult type
Symptoms Peripheral neuropathy
Symptoms Ataxia
Symptoms Others:
Symptoms spastic paraplegia
Age 48
Sex XY
Ethnic origin Mongoloid; Japan
Parents Consanguineous
Relative The older brother suffered from adult Chediak-Higashi
Relative syndrome
Treatment No bone marrow transplantation
Comment One of the oldest CHS cases in the literatures.
//
ID Intron 54(1),Intron 54(1); standard; MUTATION;
ID Intron 54(3),Intron 54(3); standard; MUTATION;
Accession C0040
Systematic name Allele 1: g.206889>, c.13242+1>, r.13242+1>
Systematic name Allele 2: g.206889>, c.13242+1>, r.13242+1>
Description Allele 1: A point mutation in the intron 54 leading to
Description aberrant splicing
Description Allele 2: A point mutation in the intron 54 leading to
Description aberrant splicing
Date 11-Mar-2014 (Rel. 1, Created)
Date 11-Mar-2014 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (11-Mar-2014) to LYSTbase.
RefLoc Haruo Shimazaki; Yakushiji 3311-1, Shimotsuke, Tochigi,
RefLoc 329-0498, Japan; Tel 81-285-58-7352; Fax 81-285-44-5118;
RefLoc e-mail hshimaza@jichi.ac.jp
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: LYST_DNA: 206889
Feature /genomic_region: intron; 54
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +0
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: LYST_DNA: 206889
Feature /genomic_region: intron; 54
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +0
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Chediak-Higashi syndrome
//
//
|
