Dtabase STXBP2base
Version 1.0
File stxbp2pub.html
Date 08-Apr-2013
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics, University of Tampere,
Address FIN-33014 Tampere, Finland
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/STXBP2base/
Gene STXBP2
Disease Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5)
OMIM 601717
Sequence IdRefSeq:D0133; IdRefSeq:C0133;
Sequence UniProt:Q15833
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Funding Finnish Academy
Comments sequence entry reference in every entry
//
ID #L87X118(1),Intron 14(4); standard; MUTATION;
Accession S0012
Systematic name Allele 1: g.4621delT, c.260delT, r.260delu,
Systematic name p.Leu87fsX32
Systematic name Allele 2: g.9073G>C, c.1247-1G>C, r.1247-1g>c
Original code P2290
Description Allele 1: A frame shift deletion mutation in the exon
Description 5 leading to a premature stop codon
Description Allele 2: A point mutation in the intron 14 leading
Description to aberrant splicing
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19804848
RefAuthors zur Stadt, U., Rohr, J., Seifert, W., Koch, F., Grieve,
RefAuthors S., Pagel, J., Strauss, J., Kasper, B., Nurnberg, G.,
RefAuthors Becker, C., Maul-Pavicic, A., Beutel, K., Janka, G.,
RefAuthors Griffiths, G., Ehl, S., Hennies, H. C.
RefTitle Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5)
RefTitle is caused by mutations in munc18-2 and impaired binding to
RefTitle syntaxin 11.
RefLoc Am J Hum Genet:482-492 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IdRefSeq: D0133: 4621
Feature /change: -t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IdRefSeq: C0133; GI:188528688; : 305
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 87
Feature /change: L -> RSKTSRGPRL SPTKRPISSS PTPAPSPCSV SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0133: 9073
Feature /change: g -> c
Feature /genomic_region: intron; 14
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 Germany
Parents Non-consanguineous
//
ID E132A(1),E132A(1); standard; MUTATION;
Accession S0024
Systematic name Allele 1 and 2: g.4846A>C, c.395A>C, r.395a>c, p.Glu132Ala
Original code UPN113
Description Allele 1 and 2: A point mutation in the exon 6 leading to
Description an amino acid change
Date 08-Oct-2010 (Rel. 1, Created)
Date 08-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20798128
RefAuthors Cetica, V., Santoro, A., Gilmour, K. C., Sieni, E.,
RefAuthors Beutel, K., Pende, D., Marcenaro, S., Koch, F., Grieve,
RefAuthors S., Wheeler, R., Zhao, F., zur Stadt, U., Griffiths, G.
RefAuthors M., Aricx, M.
RefTitle STXBP2 mutations in children with familial haemophagocytic
RefTitle lymphohistiocytosis type 5.
RefLoc J Med Genet:595-600 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0133: 4846
Feature /change: a -> c
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 440
Feature /codon: gag -> gcg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 132
Feature /change: E -> A
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0133: 4846
Feature /change: a -> c
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 440
Feature /codon: gag -> gcg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 132
Feature /change: E -> A
Symptoms Fever; Splenomegaly; Haemophagocytosis; CNS symptoms;
Sex XY
Ethnic origin Caucasoid; Italy
Parents Consanguineous
Comment Patient died of disease at age 4.7 years
//
ID L209P(1),Intron 14(1); standard; MUTATION;
Accession S0001
Systematic name Allele 1: g.5958T>C, c.626T>C, r.626u>c, p.Leu209Pro
Systematic name Allele 2: g.9073G>C, c.1247-1G>C, r.1247-1g>c
Original code P0870
Description Allele 1: A point mutation in the exon 8 leading to
Description an amino acid change
Description Allele 2: A point mutation in the intron 14 leading
Description to aberrant splicing
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19804848
RefAuthors zur Stadt, U., Rohr, J., Seifert, W., Koch, F., Grieve,
RefAuthors S., Pagel, J., Strauss, J., Kasper, B., Nurnberg, G.,
RefAuthors Becker, C., Maul-Pavicic, A., Beutel, K., Janka, G.,
RefAuthors Griffiths, G., Ehl, S., Hennies, H. C.
RefTitle Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5)
RefTitle is caused by mutations in munc18-2 and impaired binding to
RefTitle syntaxin 11.
RefLoc Am J Hum Genet:482-492 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0133: 5958
Feature /change: t -> c
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 671
Feature /codon: ctg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 209
Feature /change: L -> P
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0133: 9073
Feature /change: g -> c
Feature /genomic_region: intron; 14
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 Germany
Parents Non-consanguineous
//
ID #L231-1(1),#L231-1(1); standard; MUTATION;
Accession S0005
Systematic name Allele 1 and 2: g.6109_6111delGAT, c.693_695delGAT,
Systematic name r.693_695delgau, p.Leu231del
Original code P1155
Description Allele 1 and 2: An inframe deletion in the exon 9 leading
Description to an amino acid change
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19804848
RefAuthors zur Stadt, U., Rohr, J., Seifert, W., Koch, F., Grieve,
RefAuthors S., Pagel, J., Strauss, J., Kasper, B., Nurnberg, G.,
RefAuthors Becker, C., Maul-Pavicic, A., Beutel, K., Janka, G.,
RefAuthors Griffiths, G., Ehl, S., Hennies, H. C.
RefTitle Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5)
RefTitle is caused by mutations in munc18-2 and impaired binding to
RefTitle syntaxin 11.
RefLoc Am J Hum Genet:482-492 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IdRefSeq: D0133: 6109..6111
Feature /change: -gat
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IdRefSeq: C0133; GI:188528688; : 738..740
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 231..232
Feature /change: LI -> L
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IdRefSeq: D0133: 6109..6111
Feature /change: -gat
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IdRefSeq: C0133; GI:188528688; : 738..740
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 231..232
Feature /change: LI -> L
Ethnic origin Turkey
Parents Consanguineous
//
ID #L231-1(2),#L231-1(2); standard; MUTATION;
Accession S0006
Systematic name Allele 1 and 2: g.6109_6111delGAT, c.693_695delGAT,
Systematic name r.693_695delgau, p.Leu231del
Original code P1945
Description Allele 1 and 2: An inframe deletion in the exon 9 leading
Description to an amino acid change
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19804848
RefAuthors zur Stadt, U., Rohr, J., Seifert, W., Koch, F., Grieve,
RefAuthors S., Pagel, J., Strauss, J., Kasper, B., Nurnberg, G.,
RefAuthors Becker, C., Maul-Pavicic, A., Beutel, K., Janka, G.,
RefAuthors Griffiths, G., Ehl, S., Hennies, H. C.
RefTitle Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5)
RefTitle is caused by mutations in munc18-2 and impaired binding to
RefTitle syntaxin 11.
RefLoc Am J Hum Genet:482-492 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IdRefSeq: D0133: 6109..6111
Feature /change: -gat
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IdRefSeq: C0133; GI:188528688; : 738..740
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 231..232
Feature /change: LI -> L
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IdRefSeq: D0133: 6109..6111
Feature /change: -gat
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IdRefSeq: C0133; GI:188528688; : 738..740
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 231..232
Feature /change: LI -> L
Ethnic origin Turkey
Parents Consanguineous
//
ID R292H(1),R292H(1); standard; MUTATION;
Accession S0004
Systematic name Allele 1 and 2: g.6386G>A, c.875G>A, r.875g>a, p.Arg292His
Original code P0884
Description Allele 1 and 2: A point mutation in the exon 10 leading to
Description an amino acid change
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19804848
RefAuthors zur Stadt, U., Rohr, J., Seifert, W., Koch, F., Grieve,
RefAuthors S., Pagel, J., Strauss, J., Kasper, B., Nurnberg, G.,
RefAuthors Becker, C., Maul-Pavicic, A., Beutel, K., Janka, G.,
RefAuthors Griffiths, G., Ehl, S., Hennies, H. C.
RefTitle Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5)
RefTitle is caused by mutations in munc18-2 and impaired binding to
RefTitle syntaxin 11.
RefLoc Am J Hum Genet:482-492 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0133: 6386
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: C0133; GI:188528688; : 920
Feature /codon: cgc -> cac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 292
Feature /change: R -> H
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0133: 6386
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: C0133; GI:188528688; : 920
Feature /codon: cgc -> cac; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 292
Feature /change: R -> H
Ethnic origin Turkey
Parents Consanguineous
//
ID R405Q(1),R405Q(1); standard; MUTATION;
Accession S0011
Systematic name Allele 1 and 2: g.8597G>A, c.1214G>A, r.1214g>a,
Systematic name p.Arg405Gln
Original code P1949
Description Allele 1 and 2: A point mutation in the exon 14 leading to
Description an amino acid change
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19804848
RefAuthors zur Stadt, U., Rohr, J., Seifert, W., Koch, F., Grieve,
RefAuthors S., Pagel, J., Strauss, J., Kasper, B., Nurnberg, G.,
RefAuthors Becker, C., Maul-Pavicic, A., Beutel, K., Janka, G.,
RefAuthors Griffiths, G., Ehl, S., Hennies, H. C.
RefTitle Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5)
RefTitle is caused by mutations in munc18-2 and impaired binding to
RefTitle syntaxin 11.
RefLoc Am J Hum Genet:482-492 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0133: 8597
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 1259
Feature /codon: cgg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 405
Feature /change: R -> Q
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0133: 8597
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 1259
Feature /codon: cgg -> cag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 405
Feature /change: R -> Q
Ethnic origin Turkey
Parents Consanguineous
Comment An affected sister of the patient showed the same mutation
//
ID R405Q(2),R405Q(2); standard; MUTATION;
Accession S0025
Systematic name Allele 1 and 2: g.8597G>A, c.1214G>A, r.1214g>a,
Systematic name p.Arg405Gln
Original code UPN388
Description Allele 1 and 2: A point mutation in the exon 14 leading to
Description an amino acid change
Date 08-Oct-2010 (Rel. 1, Created)
Date 08-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20798128
RefAuthors Cetica, V., Santoro, A., Gilmour, K. C., Sieni, E.,
RefAuthors Beutel, K., Pende, D., Marcenaro, S., Koch, F., Grieve,
RefAuthors S., Wheeler, R., Zhao, F., zur Stadt, U., Griffiths, G.
RefAuthors M., Aricx, M.
RefTitle STXBP2 mutations in children with familial haemophagocytic
RefTitle lymphohistiocytosis type 5.
RefLoc J Med Genet:595-600 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0133: 8597
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 1259
Feature /codon: cgg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 405
Feature /change: R -> Q
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0133: 8597
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 1259
Feature /codon: cgg -> cag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 405
Feature /change: R -> Q
Symptoms Other clinical features: Fever; Splenomegaly;
Symptoms Haemophagocytosis;
Sex XX
Ethnic origin Pakistan
Relative
Parents Consanguineous
Comment Patient died of post HSCT enteropathy at age 2 years and 8
Comment months
//
ID R405W(1),R405W(1); standard; MUTATION;
Accession S0010
Systematic name Allele 1 and 2: g.8596C>T, c.1213C>T, r.1213c>u,
Systematic name p.Arg405Trp
Original code P1948
Description Allele 1 and 2: A point mutation in the exon 14 leading to
Description an amino acid change
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19804848
RefAuthors zur Stadt, U., Rohr, J., Seifert, W., Koch, F., Grieve,
RefAuthors S., Pagel, J., Strauss, J., Kasper, B., Nurnberg, G.,
RefAuthors Becker, C., Maul-Pavicic, A., Beutel, K., Janka, G.,
RefAuthors Griffiths, G., Ehl, S., Hennies, H. C.
RefTitle Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5)
RefTitle is caused by mutations in munc18-2 and impaired binding to
RefTitle syntaxin 11.
RefLoc Am J Hum Genet:482-492 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0133: 8596
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 1258
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 405
Feature /change: R -> W
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0133: 8596
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 1258
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 405
Feature /change: R -> W
Ethnic origin Turkey
Parents Consanguineous
//
ID P477L(1),P477L(1); standard; MUTATION;
Accession S0007
Systematic name Allele 1 and 2: g.10199C>T, c.1430C>T, r.1430c>u,
Systematic name p.Pro477Leu
Original code P1875
Description Allele 1 and 2: A point mutation in the exon 16 leading to
Description an amino acid change
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19804848
RefAuthors zur Stadt, U., Rohr, J., Seifert, W., Koch, F., Grieve,
RefAuthors S., Pagel, J., Strauss, J., Kasper, B., Nurnberg, G.,
RefAuthors Becker, C., Maul-Pavicic, A., Beutel, K., Janka, G.,
RefAuthors Griffiths, G., Ehl, S., Hennies, H. C.
RefTitle Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5)
RefTitle is caused by mutations in munc18-2 and impaired binding to
RefTitle syntaxin 11.
RefLoc Am J Hum Genet:482-492 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0133: 10199
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 1475
Feature /codon: ccg -> ctg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 477
Feature /change: P -> L
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0133: 10199
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 1475
Feature /codon: ccg -> ctg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 477
Feature /change: P -> L
Ethnic origin Saudi Arabia
Parents Consanguineous
//
ID P477L(2a),P477L(2a); standard; MUTATION;
Accession S0008
Systematic name Allele 1 and 2: g.10199C>T, c.1430C>T, r.1430c>u,
Systematic name p.Pro477Leu
Original code P1976-1
Description Allele 1 and 2: A point mutation in the exon 16 leading to
Description an amino acid change
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19804848
RefAuthors zur Stadt, U., Rohr, J., Seifert, W., Koch, F., Grieve,
RefAuthors S., Pagel, J., Strauss, J., Kasper, B., Nurnberg, G.,
RefAuthors Becker, C., Maul-Pavicic, A., Beutel, K., Janka, G.,
RefAuthors Griffiths, G., Ehl, S., Hennies, H. C.
RefTitle Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5)
RefTitle is caused by mutations in munc18-2 and impaired binding to
RefTitle syntaxin 11.
RefLoc Am J Hum Genet:482-492 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0133: 10199
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 1475
Feature /codon: ccg -> ctg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 477
Feature /change: P -> L
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0133: 10199
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 1475
Feature /codon: ccg -> ctg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 477
Feature /change: P -> L
Sex XY
Ethnic origin Saudi Arabia
Parents Consanguineous
Relative STXBP2base; S0009 brother
//
ID P477L(2b),P477L(2b); standard; MUTATION;
Accession S0009
Systematic name Allele 1 and 2: g.10199C>T, c.1430C>T, r.1430c>u,
Systematic name p.Pro477Leu
Original code P1976-2
Description Allele 1 and 2: A point mutation in the exon 16 leading to
Description an amino acid change
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19804848
RefAuthors zur Stadt, U., Rohr, J., Seifert, W., Koch, F., Grieve,
RefAuthors S., Pagel, J., Strauss, J., Kasper, B., Nurnberg, G.,
RefAuthors Becker, C., Maul-Pavicic, A., Beutel, K., Janka, G.,
RefAuthors Griffiths, G., Ehl, S., Hennies, H. C.
RefTitle Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5)
RefTitle is caused by mutations in munc18-2 and impaired binding to
RefTitle syntaxin 11.
RefLoc Am J Hum Genet:482-492 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0133: 10199
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 1475
Feature /codon: ccg -> ctg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 477
Feature /change: P -> L
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0133: 10199
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 1475
Feature /codon: ccg -> ctg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 477
Feature /change: P -> L
Sex XY
Ethnic origin Saudi Arabia
Parents Consanguineous
Relative STXBP2base; S0008 brother
//
ID P477L(3),P477L(3); standard; MUTATION;
Accession S0014
Systematic name Allele 1 and 2: g.10199C>T, c.1430C>T, r.1430c>u,
Systematic name p.Pro477Leu
Original code F1P1
Description Allele 1 and 2: A point mutation in the exon 16 leading to
Description an amino acid change
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19884660
RefAuthors Cote, M., Menager, M. M., Burgess, A., Mahlaoui, N.,
RefAuthors Picard, C., Schaffner, C., Al-Manjomi, F., Al-Harbi, M.,
RefAuthors Alangari, A., Le Deist, F., Gennery, A. R., Prince, N.,
RefAuthors Cariou, A., Nitschke, P., Blank, U., El-Ghazali, G.,
RefAuthors Menasche, G., Latour, S., Fischer, A., de Saint Basile, G.
RefTitle Munc18-2 deficiency causes familial hemophagocytic
RefTitle lymphohistiocytosis type 5 and impairs cytotoxic granule
RefTitle exocytosis in patient NK cells.
RefLoc J Clin Invest:3765-3773 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0133: 10199
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 1475
Feature /codon: ccg -> ctg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 477
Feature /change: P -> L
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0133: 10199
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 1475
Feature /codon: ccg -> ctg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 477
Feature /change: P -> L
Ethnic origin Saudi Arabia
//
ID P477L(4a),P477L(4a); standard; MUTATION;
Accession S0015
Systematic name Allele 1 and 2: g.10199C>T, c.1430C>T, r.1430c>u,
Systematic name p.Pro477Leu
Original code F2P1
Description Allele 1 and 2: A point mutation in the exon 16 leading to
Description an amino acid change
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19884660
RefAuthors Cote, M., Menager, M. M., Burgess, A., Mahlaoui, N.,
RefAuthors Picard, C., Schaffner, C., Al-Manjomi, F., Al-Harbi, M.,
RefAuthors Alangari, A., Le Deist, F., Gennery, A. R., Prince, N.,
RefAuthors Cariou, A., Nitschke, P., Blank, U., El-Ghazali, G.,
RefAuthors Menasche, G., Latour, S., Fischer, A., de Saint Basile, G.
RefTitle Munc18-2 deficiency causes familial hemophagocytic
RefTitle lymphohistiocytosis type 5 and impairs cytotoxic granule
RefTitle exocytosis in patient NK cells.
RefLoc J Clin Invest:3765-3773 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0133: 10199
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 1475
Feature /codon: ccg -> ctg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 477
Feature /change: P -> L
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0133: 10199
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 1475
Feature /codon: ccg -> ctg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 477
Feature /change: P -> L
Ethnic origin Saudi Arabia
Relative STXBP2base; S0016
//
ID P477L(4b),P477L(4b); standard; MUTATION;
Accession S0016
Systematic name Allele 1 and 2: g.10199C>T, c.1430C>T, r.1430c>u,
Systematic name p.Pro477Leu
Original code F2P2
Description Allele 1 and 2: A point mutation in the exon 16 leading to
Description an amino acid change
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19884660
RefAuthors Cote, M., Menager, M. M., Burgess, A., Mahlaoui, N.,
RefAuthors Picard, C., Schaffner, C., Al-Manjomi, F., Al-Harbi, M.,
RefAuthors Alangari, A., Le Deist, F., Gennery, A. R., Prince, N.,
RefAuthors Cariou, A., Nitschke, P., Blank, U., El-Ghazali, G.,
RefAuthors Menasche, G., Latour, S., Fischer, A., de Saint Basile, G.
RefTitle Munc18-2 deficiency causes familial hemophagocytic
RefTitle lymphohistiocytosis type 5 and impairs cytotoxic granule
RefTitle exocytosis in patient NK cells.
RefLoc J Clin Invest:3765-3773 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0133: 10199
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 1475
Feature /codon: ccg -> ctg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 477
Feature /change: P -> L
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0133: 10199
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 1475
Feature /codon: ccg -> ctg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 477
Feature /change: P -> L
Ethnic origin Saudi Arabia
Relative STXBP2base; S0015
//
ID P477L(5a),P477L(5a); standard; MUTATION;
Accession S0017
Systematic name Allele 1 and 2: g.10199C>T, c.1430C>T, r.1430c>u,
Systematic name p.Pro477Leu
Original code F3P1
Description Allele 1 and 2: A point mutation in the exon 16 leading to
Description an amino acid change
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19884660
RefAuthors Cote, M., Menager, M. M., Burgess, A., Mahlaoui, N.,
RefAuthors Picard, C., Schaffner, C., Al-Manjomi, F., Al-Harbi, M.,
RefAuthors Alangari, A., Le Deist, F., Gennery, A. R., Prince, N.,
RefAuthors Cariou, A., Nitschke, P., Blank, U., El-Ghazali, G.,
RefAuthors Menasche, G., Latour, S., Fischer, A., de Saint Basile, G.
RefTitle Munc18-2 deficiency causes familial hemophagocytic
RefTitle lymphohistiocytosis type 5 and impairs cytotoxic granule
RefTitle exocytosis in patient NK cells.
RefLoc J Clin Invest:3765-3773 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0133: 10199
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 1475
Feature /codon: ccg -> ctg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 477
Feature /change: P -> L
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0133: 10199
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 1475
Feature /codon: ccg -> ctg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 477
Feature /change: P -> L
Ethnic origin Saudi Arabia
Relative STXBP2base; S0018
//
ID P477L(5b),P477L(5b); standard; MUTATION;
Accession S0018
Systematic name Allele 1 and 2: g.10199C>T, c.1430C>T, r.1430c>u,
Systematic name p.Pro477Leu
Original code F3P2
Description Allele 1 and 2: A point mutation in the exon 16 leading to
Description an amino acid change
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19884660
RefAuthors Cote, M., Menager, M. M., Burgess, A., Mahlaoui, N.,
RefAuthors Picard, C., Schaffner, C., Al-Manjomi, F., Al-Harbi, M.,
RefAuthors Alangari, A., Le Deist, F., Gennery, A. R., Prince, N.,
RefAuthors Cariou, A., Nitschke, P., Blank, U., El-Ghazali, G.,
RefAuthors Menasche, G., Latour, S., Fischer, A., de Saint Basile, G.
RefTitle Munc18-2 deficiency causes familial hemophagocytic
RefTitle lymphohistiocytosis type 5 and impairs cytotoxic granule
RefTitle exocytosis in patient NK cells.
RefLoc J Clin Invest:3765-3773 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0133: 10199
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 1475
Feature /codon: ccg -> ctg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 477
Feature /change: P -> L
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0133: 10199
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 1475
Feature /codon: ccg -> ctg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 477
Feature /change: P -> L
Ethnic origin Saudi Arabia
Relative STXBP2base; S0017
//
ID P477L(6),P477L(6); standard; MUTATION;
Accession S0019
Systematic name Allele 1 and 2: g.10199C>T, c.1430C>T, r.1430c>u,
Systematic name p.Pro477Leu
Original code F4P1
Description Allele 1 and 2: A point mutation in the exon 16 leading to
Description an amino acid change
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19884660
RefAuthors Cote, M., Menager, M. M., Burgess, A., Mahlaoui, N.,
RefAuthors Picard, C., Schaffner, C., Al-Manjomi, F., Al-Harbi, M.,
RefAuthors Alangari, A., Le Deist, F., Gennery, A. R., Prince, N.,
RefAuthors Cariou, A., Nitschke, P., Blank, U., El-Ghazali, G.,
RefAuthors Menasche, G., Latour, S., Fischer, A., de Saint Basile, G.
RefTitle Munc18-2 deficiency causes familial hemophagocytic
RefTitle lymphohistiocytosis type 5 and impairs cytotoxic granule
RefTitle exocytosis in patient NK cells.
RefLoc J Clin Invest:3765-3773 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0133: 10199
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 1475
Feature /codon: ccg -> ctg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 477
Feature /change: P -> L
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0133: 10199
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 1475
Feature /codon: ccg -> ctg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 477
Feature /change: P -> L
Ethnic origin Saudi Arabia
//
ID P477L(7),P477L(7); standard; MUTATION;
Accession S0026
Systematic name Allele 1 and 2: g.10199C>T, c.1430C>T, r.1430c>u,
Systematic name p.Pro477Leu
Original code UPN392
Description Allele 1 and 2: A point mutation in the exon 16 leading to
Description an amino acid change
Date 08-Oct-2010 (Rel. 1, Created)
Date 08-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20798128
RefAuthors Cetica, V., Santoro, A., Gilmour, K. C., Sieni, E.,
RefAuthors Beutel, K., Pende, D., Marcenaro, S., Koch, F., Grieve,
RefAuthors S., Wheeler, R., Zhao, F., zur Stadt, U., Griffiths, G.
RefAuthors M., Aricx, M.
RefTitle STXBP2 mutations in children with familial haemophagocytic
RefTitle lymphohistiocytosis type 5.
RefLoc J Med Genet:595-600 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0133: 10199
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 1475
Feature /codon: ccg -> ctg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 477
Feature /change: P -> L
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0133: 10199
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 1475
Feature /codon: ccg -> ctg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 477
Feature /change: P -> L
Symptoms Fever; Splenomegaly; Haemophagocytosis;
Sex XX
Ethnic origin Kuwait
//
ID G541S(1),G541S(1); standard; MUTATION;
Accession S0027
Systematic name Allele 1 and 2: g.11313G>A, c.1621G>A, r.1621g>a,
Systematic name p.Gly541Ser
Original code UPN408
Description Allele 1 and 2: A point mutation in the exon 18 leading to
Description an amino acid change
Date 08-Oct-2010 (Rel. 1, Created)
Date 08-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20798128
RefAuthors Cetica, V., Santoro, A., Gilmour, K. C., Sieni, E.,
RefAuthors Beutel, K., Pende, D., Marcenaro, S., Koch, F., Grieve,
RefAuthors S., Wheeler, R., Zhao, F., zur Stadt, U., Griffiths, G.
RefAuthors M., Aricx, M.
RefTitle STXBP2 mutations in children with familial haemophagocytic
RefTitle lymphohistiocytosis type 5.
RefLoc J Med Genet:595-600 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0133: 11313
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 18
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 1666
Feature /codon: ggt -> agt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 541
Feature /change: G -> S
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0133: 11313
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 18
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0133; GI:188528688; : 1666
Feature /codon: ggt -> agt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q15833; STXB2_HUMAN: 541
Feature /change: G -> S
Symptoms Fever; Splenomegaly; Haemophagocytosis;
Sex XX
Ethnic origin Caucasoid; UK
//
ID Intron 14(2),Intron 14(2); standard; MUTATION;
Accession S0002
Systematic name Allele 1 and 2: g.9073G>C, c.1247-1G>C, r.1247-1g>c
Original code P0879
Description Allele 1 and 2: A point mutation in the intron 14 leading
Description to aberrant splicing
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19804848
RefAuthors zur Stadt, U., Rohr, J., Seifert, W., Koch, F., Grieve,
RefAuthors S., Pagel, J., Strauss, J., Kasper, B., Nurnberg, G.,
RefAuthors Becker, C., Maul-Pavicic, A., Beutel, K., Janka, G.,
RefAuthors Griffiths, G., Ehl, S., Hennies, H. C.
RefTitle Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5)
RefTitle is caused by mutations in munc18-2 and impaired binding to
RefTitle syntaxin 11.
RefLoc Am J Hum Genet:482-492 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0133: 9073
Feature /change: g -> c
Feature /genomic_region: intron; 14
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: D0133: 9073
Feature /change: g -> c
Feature /genomic_region: intron; 14
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 Turkey
Parents Consanguineous
//
ID Intron 14(3),Intron 14(3); standard; MUTATION;
Accession S0003
Systematic name Allele 1 and 2: g.9073G>C, c.1247-1G>C, r.1247-1g>c
Original code P2289
Description Allele 1 and 2: A point mutation in the intron 14 leading
Description to aberrant splicing
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19804848
RefAuthors zur Stadt, U., Rohr, J., Seifert, W., Koch, F., Grieve,
RefAuthors S., Pagel, J., Strauss, J., Kasper, B., Nurnberg, G.,
RefAuthors Becker, C., Maul-Pavicic, A., Beutel, K., Janka, G.,
RefAuthors Griffiths, G., Ehl, S., Hennies, H. C.
RefTitle Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5)
RefTitle is caused by mutations in munc18-2 and impaired binding to
RefTitle syntaxin 11.
RefLoc Am J Hum Genet:482-492 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0133: 9073
Feature /change: g -> c
Feature /genomic_region: intron; 14
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: D0133: 9073
Feature /change: g -> c
Feature /genomic_region: intron; 14
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 Germany
Parents Non-consanguineous
//
ID Intron 14(5),Intron 14(5); standard; MUTATION;
Accession S0013
Systematic name Allele 1 and 2: g.9073G>C, c.1247-1G>C, r.1247-1g>c
Original code P2291
Description Allele 1 and 2: A point mutation in the intron 14 leading
Description to aberrant splicing
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19804848
RefAuthors zur Stadt, U., Rohr, J., Seifert, W., Koch, F., Grieve,
RefAuthors S., Pagel, J., Strauss, J., Kasper, B., Nurnberg, G.,
RefAuthors Becker, C., Maul-Pavicic, A., Beutel, K., Janka, G.,
RefAuthors Griffiths, G., Ehl, S., Hennies, H. C.
RefTitle Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5)
RefTitle is caused by mutations in munc18-2 and impaired binding to
RefTitle syntaxin 11.
RefLoc Am J Hum Genet:482-492 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0133: 9073
Feature /change: g -> c
Feature /genomic_region: intron; 14
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: D0133: 9073
Feature /change: g -> c
Feature /genomic_region: intron; 14
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 Czech Republic
Parents Non-consanguineous
//
ID Intron 14(6),Intron 14(6); standard; MUTATION;
Accession S0020
Systematic name Allele 1 and 2: g.9073G>C, c.1247-1G>C, r.1247-1g>c
Original code F4P1
Description Allele 1 and 2: A point mutation in the intron 14 leading
Description to aberrant splicing
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19884660
RefAuthors Cote, M., Menager, M. M., Burgess, A., Mahlaoui, N.,
RefAuthors Picard, C., Schaffner, C., Al-Manjomi, F., Al-Harbi, M.,
RefAuthors Alangari, A., Le Deist, F., Gennery, A. R., Prince, N.,
RefAuthors Cariou, A., Nitschke, P., Blank, U., El-Ghazali, G.,
RefAuthors Menasche, G., Latour, S., Fischer, A., de Saint Basile, G.
RefTitle Munc18-2 deficiency causes familial hemophagocytic
RefTitle lymphohistiocytosis type 5 and impairs cytotoxic granule
RefTitle exocytosis in patient NK cells.
RefLoc J Clin Invest:3765-3773 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0133: 9073
Feature /change: g -> c
Feature /genomic_region: intron; 14
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: D0133: 9073
Feature /change: g -> c
Feature /genomic_region: intron; 14
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 Palestine
//
ID Intron 14(7a),Intron 14(7a); standard; MUTATION;
Accession S0021
Systematic name Allele 1 and 2: g.9073G>C, c.1247-1G>C, r.1247-1g>c
Original code F5P1
Description Allele 1 and 2: A point mutation in the intron 14 leading
Description to aberrant splicing
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19884660
RefAuthors Cote, M., Menager, M. M., Burgess, A., Mahlaoui, N.,
RefAuthors Picard, C., Schaffner, C., Al-Manjomi, F., Al-Harbi, M.,
RefAuthors Alangari, A., Le Deist, F., Gennery, A. R., Prince, N.,
RefAuthors Cariou, A., Nitschke, P., Blank, U., El-Ghazali, G.,
RefAuthors Menasche, G., Latour, S., Fischer, A., de Saint Basile, G.
RefTitle Munc18-2 deficiency causes familial hemophagocytic
RefTitle lymphohistiocytosis type 5 and impairs cytotoxic granule
RefTitle exocytosis in patient NK cells.
RefLoc J Clin Invest:3765-3773 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0133: 9073
Feature /change: g -> c
Feature /genomic_region: intron; 14
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: D0133: 9073
Feature /change: g -> c
Feature /genomic_region: intron; 14
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 Turkey
Relative STXBP2base; S0022;
//
ID Intron 14(7b),Intron 14(7b); standard; MUTATION;
Accession S0022
Systematic name Allele 1 and 2: g.9073G>C, c.1247-1G>C, r.1247-1g>c
Original code F5P2
Description Allele 1 and 2: A point mutation in the intron 14 leading
Description to aberrant splicing
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19884660
RefAuthors Cote, M., Menager, M. M., Burgess, A., Mahlaoui, N.,
RefAuthors Picard, C., Schaffner, C., Al-Manjomi, F., Al-Harbi, M.,
RefAuthors Alangari, A., Le Deist, F., Gennery, A. R., Prince, N.,
RefAuthors Cariou, A., Nitschke, P., Blank, U., El-Ghazali, G.,
RefAuthors Menasche, G., Latour, S., Fischer, A., de Saint Basile, G.
RefTitle Munc18-2 deficiency causes familial hemophagocytic
RefTitle lymphohistiocytosis type 5 and impairs cytotoxic granule
RefTitle exocytosis in patient NK cells.
RefLoc J Clin Invest:3765-3773 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0133: 9073
Feature /change: g -> c
Feature /genomic_region: intron; 14
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: D0133: 9073
Feature /change: g -> c
Feature /genomic_region: intron; 14
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 Turkey
Relative STXBP2base; S0021;
//
ID Intron 14(8),Intron 14(8); standard; MUTATION;
Accession S0023
Systematic name Allele 1 and 2: g.9073G>C, c.1247-1G>C, r.1247-1g>c
Original code F6P1
Description Allele 1 and 2: A point mutation in the intron 14 leading
Description to aberrant splicing
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19884660
RefAuthors Cote, M., Menager, M. M., Burgess, A., Mahlaoui, N.,
RefAuthors Picard, C., Schaffner, C., Al-Manjomi, F., Al-Harbi, M.,
RefAuthors Alangari, A., Le Deist, F., Gennery, A. R., Prince, N.,
RefAuthors Cariou, A., Nitschke, P., Blank, U., El-Ghazali, G.,
RefAuthors Menasche, G., Latour, S., Fischer, A., de Saint Basile, G.
RefTitle Munc18-2 deficiency causes familial hemophagocytic
RefTitle lymphohistiocytosis type 5 and impairs cytotoxic granule
RefTitle exocytosis in patient NK cells.
RefLoc J Clin Invest:3765-3773 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0133: 9073
Feature /change: g -> c
Feature /genomic_region: intron; 14
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: D0133: 9073
Feature /change: g -> c
Feature /genomic_region: intron; 14
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 Iran
//
//
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