Dtabase G6PC3base
Version 1.0
File g6pc3pub.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/G6PC3base/
Gene G6PC3
Disease Severe Congenital Neutropenia
OMIM 611045
Sequence IdRefSeq:D0135; IdRefSeq:C0135;
Sequence UniProt:Q9BUM1
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 Y47X(1),Y47X(1); standard; MUTATION;
Accession G0007
Systematic name Allele 1 and 2: g.1357C>G, c.141C>G, r.141c>g, p.Tyr47X
Original code Indv.7
Description Allele 1 and 2: A point mutation in the exon 1 leading to a
Description premature stop codon
Date 12-Oct-2010 (Rel. 1, Created)
Date 12-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19118303
RefAuthors Boztug, K., Appaswamy, G., Ashikov, A., Schaffer, A. A.,
RefAuthors Salzer, U., Diestelhorst, J., Germeshausen, M., Brandes,
RefAuthors G., Lee-Gossler, J., Noyan, F., Gatzke, A. K., Minkov, M.,
RefAuthors Greil, J., Kratz, C., Petropoulou, T., Pellier, I.,
RefAuthors Bellanne-Chantelot, C., Rezaei, N., Monkemoller, K., Irani-
RefAuthors Hakimeh, N., Bakker, H., Gerardy-Schahn, R., Zeidler, C.,
RefAuthors Grimbacher, B., Welte, K., Klein, C.
RefTitle A syndrome with congenital neutropenia and mutations in
RefTitle G6PC3.
RefLoc N Engl J Med:32-43 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0135: 1357
Feature /change: c -> g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 377
Feature /codon: tac -> tag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 47
Feature /change: Y -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0135: 1357
Feature /change: c -> g
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 377
Feature /codon: tac -> tag; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 47
Feature /change: Y -> X
Symptoms Perianal abscesses; Recurrent urinary tract infections;
Symptoms Inner ear hearing loss; Increased venous marking;
Sex XX
Ethnic origin Caucasoid; Greece
//
ID Y48X(1),Y48X(1); standard; MUTATION;
Accession G0012
Systematic name Allele 1 and 2: g.1360C>A, c.144C>A, r.144c>a, p.Tyr48X
Original code Indv.12
Description Allele 1 and 2: A point mutation in the exon 1 leading to a
Description premature stop codon
Date 12-Oct-2010 (Rel. 1, Created)
Date 12-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19118303
RefAuthors Boztug, K., Appaswamy, G., Ashikov, A., Schaffer, A. A.,
RefAuthors Salzer, U., Diestelhorst, J., Germeshausen, M., Brandes,
RefAuthors G., Lee-Gossler, J., Noyan, F., Gatzke, A. K., Minkov, M.,
RefAuthors Greil, J., Kratz, C., Petropoulou, T., Pellier, I.,
RefAuthors Bellanne-Chantelot, C., Rezaei, N., Monkemoller, K., Irani-
RefAuthors Hakimeh, N., Bakker, H., Gerardy-Schahn, R., Zeidler, C.,
RefAuthors Grimbacher, B., Welte, K., Klein, C.
RefTitle A syndrome with congenital neutropenia and mutations in
RefTitle G6PC3.
RefLoc N Engl J Med:32-43 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0135: 1360
Feature /change: c -> a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 380
Feature /codon: tac -> taa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 48
Feature /change: Y -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0135: 1360
Feature /change: c -> a
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 380
Feature /codon: tac -> taa; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 48
Feature /change: Y -> X
Symptoms Respiratory tract infection; Cryptorchidism; bilateral
Symptoms inguinal hernia; Cleft palate;
Sex XY
Ethnic origin Lebanon
//
ID T118R/G260R(1),T118R/G260R(1); standard; MUTATION;
Accession G0014
Systematic name Allele 1 and 2: g.[4958C>G;6031G>C], c.[353C>G;778G>C],
Systematic name r.[353c>g;778g>c], p.[Thr118Arg;Gly260Arg]
Original code P9
Description Allele 1 and 2: Two point mutations leading to
Description amino acid changes
Date 12-Oct-2010 (Rel. 1, Created)
Date 12-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19775295
RefAuthors Xia, J., Bolyard, A. A., Rodger, E., Stein, S., Aprikyan,
RefAuthors A. A., Dale, D. C., Link, D. C.
RefTitle Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS
RefTitle and G6PC3 in patients with severe congenital neutropenia.
RefLoc Br J Haematol:535-542 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: IdRefSeq: D0135: 4958
Feature /change: c -> g
Feature /genomic_region: exon; 3
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IdRefSeq: D0135: 6031
Feature /change: g -> c
Feature /genomic_region: exon; 6
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 589
Feature /codon: aca -> aga; 2
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 1014
Feature /codon: ggc -> cgc; 1
Feature aa; 5
Feature /rnalink: 3
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 118
Feature /change: T -> R
Feature aa; 6
Feature /rnalink: 4
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 260
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 9
Feature /name: point
Feature /loc: IdRefSeq: D0135: 4958
Feature /change: c -> g
Feature /genomic_region: exon; 3
Feature dna; 8
Feature /rnalink: 10
Feature /name: point
Feature /loc: IdRefSeq: D0135: 6031
Feature /change: g -> c
Feature /genomic_region: exon; 6
Feature rna; 9
Feature /dnalink: 7
Feature /aalink: 11
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 589
Feature /codon: aca -> aga; 2
Feature rna; 10
Feature /dnalink: 8
Feature /aalink: 12
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 1014
Feature /codon: ggc -> cgc; 1
Feature aa; 11
Feature /rnalink: 9
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 118
Feature /change: T -> R
Feature aa; 12
Feature /rnalink: 10
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 260
Feature /change: G -> R
Symptoms Secundum atrial septal defect; Intermittent
Symptoms thrombocytopenia;
//
ID M116K(1),M116K(1); standard; MUTATION;
Accession G0015
Systematic name Allele 1 and 2: g.4952T>A, c.347T>A, r.347u>a, p.Met116Lys
Original code P.1
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change
Date 12-Oct-2010 (Rel. 1, Created)
Date 12-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20220065
RefAuthors Germeshausen, M., Zeidler, C., Stuhrmann, M., Lanciotti,
RefAuthors M., Ballmaier, M., Welte, K.
RefTitle Digenic mutations in severe congenital neutropenia.
RefLoc Haematologica:1207-1210 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0135: 4952
Feature /change: t -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 583
Feature /codon: atg -> aag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 116
Feature /change: M -> K
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0135: 4952
Feature /change: t -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 583
Feature /codon: atg -> aag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 116
Feature /change: M -> K
Symptoms Neutropenia; Thrombocytopenia; Constitutional
Symptoms developmental delay; Hypogonadotropic hypogonadism;
Symptoms Type II atrial septal defect; Mild mitral and tricuspid
Symptoms insufficiency; Prominent superficial venous pattern;
Sex XX
Ethnic origin Turkey
//
ID M116V(1a),M116V(1a); standard; MUTATION;
Accession G0021
Systematic name Allele 1 and 2: g.4951A>G, c.346A>G, r.346a>g, p.Met116Val
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change
Date 12-Oct-2010 (Rel. 1, Created)
Date 12-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20799326
RefAuthors Banka, S., Newman, W. G., Ozgul, R. K., Dursun, A.
RefTitle Mutations in the G6PC3 gene cause dursun syndrome.
RefLoc Am J Med Genet A:2609-2611 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0135: 4951
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 582
Feature /codon: atg -> gtg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 116
Feature /change: M -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0135: 4951
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 582
Feature /codon: atg -> gtg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 116
Feature /change: M -> V
Symptoms Other clinical features: Sexcumdum atrial septal defect;;
Symptoms Neutropenia; Lymphopenia; Monocytosis; Anemia; Dysplastic
Symptoms bone marrow; Thymus hypoplasia; Proximally placed thumbs;
Symptoms Broad nasal bridge; Pectus carinatum; High arched palate;
Sex XX
Ethnic origin Turkey
Relative G6PC3base; G0022 brother
Parents Non-consanguineous
//
ID M116V(1b),M116V(1b); standard; MUTATION;
Accession G0022
Systematic name Allele 1 and 2: g.4951A>G, c.346A>G, r.346a>g, p.Met116Val
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change
Date 12-Oct-2010 (Rel. 1, Created)
Date 12-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20799326
RefAuthors Banka, S., Newman, W. G., Ozgul, R. K., Dursun, A.
RefTitle Mutations in the G6PC3 gene cause dursun syndrome.
RefLoc Am J Med Genet A:2609-2611 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0135: 4951
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 582
Feature /codon: atg -> gtg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 116
Feature /change: M -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0135: 4951
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 582
Feature /codon: atg -> gtg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 116
Feature /change: M -> V
Symptoms Other clinical features: Sexcumdum atrial septal defect;;
Symptoms Neutropenia; Lymphopenia; Monocytosis; Anemia; Dysplastic
Symptoms bone marrow; Thymus hypoplasia; Proximally placed thumbs;
Symptoms Broad nasal bridge; Pectus carinatum; High arched palate;
Sex XY
Ethnic origin Turkey
Relative G6PC3base; G0021 sister
Parents Non-consanguineous
//
ID L185P(1),L185P(1); standard; MUTATION;
Accession G0006
Systematic name Allele 1 and 2: g.5579T>C, c.554T>C, r.554u>c, p.Leu185Pro
Original code Indv.6
Description Allele 1 and 2: A point mutation in the exon 5 leading to
Description an amino acid change
Date 12-Oct-2010 (Rel. 1, Created)
Date 12-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19118303
RefAuthors Boztug, K., Appaswamy, G., Ashikov, A., Schaffer, A. A.,
RefAuthors Salzer, U., Diestelhorst, J., Germeshausen, M., Brandes,
RefAuthors G., Lee-Gossler, J., Noyan, F., Gatzke, A. K., Minkov, M.,
RefAuthors Greil, J., Kratz, C., Petropoulou, T., Pellier, I.,
RefAuthors Bellanne-Chantelot, C., Rezaei, N., Monkemoller, K., Irani-
RefAuthors Hakimeh, N., Bakker, H., Gerardy-Schahn, R., Zeidler, C.,
RefAuthors Grimbacher, B., Welte, K., Klein, C.
RefTitle A syndrome with congenital neutropenia and mutations in
RefTitle G6PC3.
RefLoc N Engl J Med:32-43 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0135: 5579
Feature /change: t -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 790
Feature /codon: ctg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 185
Feature /change: L -> P
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0135: 5579
Feature /change: t -> c
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 790
Feature /codon: ctg -> ccg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 185
Feature /change: L -> P
Symptoms Pneumonia; Sepsis; Pulmonary valve stenosis panniculitis;
Symptoms Increased venous marking;
Sex XX
Ethnic origin Turkey
//
ID R253H(1a),R253H(1a); standard; MUTATION;
Accession G0001
Systematic name Allele 1 and 2: g.6011G>A, c.758G>A, r.758g>a, p.Arg253His
Original code P1
Description Allele 1 and 2: A point mutation in the exon 6 leading to
Description an amino acid change
Date 12-Oct-2010 (Rel. 1, Created)
Date 12-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19118303
RefAuthors Boztug, K., Appaswamy, G., Ashikov, A., Schaffer, A. A.,
RefAuthors Salzer, U., Diestelhorst, J., Germeshausen, M., Brandes,
RefAuthors G., Lee-Gossler, J., Noyan, F., Gatzke, A. K., Minkov, M.,
RefAuthors Greil, J., Kratz, C., Petropoulou, T., Pellier, I.,
RefAuthors Bellanne-Chantelot, C., Rezaei, N., Monkemoller, K., Irani-
RefAuthors Hakimeh, N., Bakker, H., Gerardy-Schahn, R., Zeidler, C.,
RefAuthors Grimbacher, B., Welte, K., Klein, C.
RefTitle A syndrome with congenital neutropenia and mutations in
RefTitle G6PC3.
RefLoc N Engl J Med:32-43 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0135: 6011
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 994
Feature /codon: cgt -> cat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 253
Feature /change: R -> H
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0135: 6011
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 994
Feature /codon: cgt -> cat; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 253
Feature /change: R -> H
Symptoms Neonatal sepsis; otitis media; Thrombocytopenia;
Symptoms Hepatosplenomegaly;
Sex XY
Ethnic origin Turkey
Relative G6PC3base; G0002 sister
//
ID R253H(1b),R253H(1b); standard; MUTATION;
Accession G0002
Systematic name Allele 1 and 2: g.6011G>A, c.758G>A, r.758g>a, p.Arg253His
Original code P2
Description Allele 1 and 2: A point mutation in the exon 6 leading to
Description an amino acid change
Date 12-Oct-2010 (Rel. 1, Created)
Date 12-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19118303
RefAuthors Boztug, K., Appaswamy, G., Ashikov, A., Schaffer, A. A.,
RefAuthors Salzer, U., Diestelhorst, J., Germeshausen, M., Brandes,
RefAuthors G., Lee-Gossler, J., Noyan, F., Gatzke, A. K., Minkov, M.,
RefAuthors Greil, J., Kratz, C., Petropoulou, T., Pellier, I.,
RefAuthors Bellanne-Chantelot, C., Rezaei, N., Monkemoller, K., Irani-
RefAuthors Hakimeh, N., Bakker, H., Gerardy-Schahn, R., Zeidler, C.,
RefAuthors Grimbacher, B., Welte, K., Klein, C.
RefTitle A syndrome with congenital neutropenia and mutations in
RefTitle G6PC3.
RefLoc N Engl J Med:32-43 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0135: 6011
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 994
Feature /codon: cgt -> cat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 253
Feature /change: R -> H
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0135: 6011
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 994
Feature /codon: cgt -> cat; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 253
Feature /change: R -> H
Symptoms Neonatal pneumonia and sepsis; Malformation of
Symptoms pulmonary veins; Hepatosplenomegaly;
Sex XX
Ethnic origin Turkey
Relative G6PC3base; G0001 brother
//
ID R253H(2),R253H(2); standard; MUTATION;
Accession G0003
Systematic name Allele 1 and 2: g.6011G>A, c.758G>A, r.758g>a, p.Arg253His
Original code P3
Description Allele 1 and 2: A point mutation in the exon 6 leading to
Description an amino acid change
Date 12-Oct-2010 (Rel. 1, Created)
Date 12-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19118303
RefAuthors Boztug, K., Appaswamy, G., Ashikov, A., Schaffer, A. A.,
RefAuthors Salzer, U., Diestelhorst, J., Germeshausen, M., Brandes,
RefAuthors G., Lee-Gossler, J., Noyan, F., Gatzke, A. K., Minkov, M.,
RefAuthors Greil, J., Kratz, C., Petropoulou, T., Pellier, I.,
RefAuthors Bellanne-Chantelot, C., Rezaei, N., Monkemoller, K., Irani-
RefAuthors Hakimeh, N., Bakker, H., Gerardy-Schahn, R., Zeidler, C.,
RefAuthors Grimbacher, B., Welte, K., Klein, C.
RefTitle A syndrome with congenital neutropenia and mutations in
RefTitle G6PC3.
RefLoc N Engl J Med:32-43 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0135: 6011
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 994
Feature /codon: cgt -> cat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 253
Feature /change: R -> H
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0135: 6011
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 994
Feature /codon: cgt -> cat; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 253
Feature /change: R -> H
Symptoms Pneumonia ; Sepsis; Mitral insufficiency; Intermittent
Symptoms thrombocytopenia; Hepatosplenomegaly;
Sex XX
Ethnic origin Turkey
//
ID R253H(3),R253H(3); standard; MUTATION;
Accession G0004
Systematic name Allele 1 and 2: g.6011G>A, c.758G>A, r.758g>a, p.Arg253His
Original code P4
Description Allele 1 and 2: A point mutation in the exon 6 leading to
Description an amino acid change
Date 12-Oct-2010 (Rel. 1, Created)
Date 12-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19118303
RefAuthors Boztug, K., Appaswamy, G., Ashikov, A., Schaffer, A. A.,
RefAuthors Salzer, U., Diestelhorst, J., Germeshausen, M., Brandes,
RefAuthors G., Lee-Gossler, J., Noyan, F., Gatzke, A. K., Minkov, M.,
RefAuthors Greil, J., Kratz, C., Petropoulou, T., Pellier, I.,
RefAuthors Bellanne-Chantelot, C., Rezaei, N., Monkemoller, K., Irani-
RefAuthors Hakimeh, N., Bakker, H., Gerardy-Schahn, R., Zeidler, C.,
RefAuthors Grimbacher, B., Welte, K., Klein, C.
RefTitle A syndrome with congenital neutropenia and mutations in
RefTitle G6PC3.
RefLoc N Engl J Med:32-43 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0135: 6011
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 994
Feature /codon: cgt -> cat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 253
Feature /change: R -> H
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0135: 6011
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 994
Feature /codon: cgt -> cat; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 253
Feature /change: R -> H
Symptoms Neonatal sepsis; Cryptorchidism;
Symptoms Increased venous marking;
Sex XY
Ethnic origin Turkey
//
ID R253H(4),R253H(4); standard; MUTATION;
Accession G0005
Systematic name Allele 1 and 2: g.6011G>A, c.758G>A, r.758g>a, p.Arg253His
Original code P5
Description Allele 1 and 2: A point mutation in the exon 6 leading to
Description an amino acid change
Date 12-Oct-2010 (Rel. 1, Created)
Date 12-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19118303
RefAuthors Boztug, K., Appaswamy, G., Ashikov, A., Schaffer, A. A.,
RefAuthors Salzer, U., Diestelhorst, J., Germeshausen, M., Brandes,
RefAuthors G., Lee-Gossler, J., Noyan, F., Gatzke, A. K., Minkov, M.,
RefAuthors Greil, J., Kratz, C., Petropoulou, T., Pellier, I.,
RefAuthors Bellanne-Chantelot, C., Rezaei, N., Monkemoller, K., Irani-
RefAuthors Hakimeh, N., Bakker, H., Gerardy-Schahn, R., Zeidler, C.,
RefAuthors Grimbacher, B., Welte, K., Klein, C.
RefTitle A syndrome with congenital neutropenia and mutations in
RefTitle G6PC3.
RefLoc N Engl J Med:32-43 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0135: 6011
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 994
Feature /codon: cgt -> cat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 253
Feature /change: R -> H
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0135: 6011
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 994
Feature /codon: cgt -> cat; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 253
Feature /change: R -> H
Symptoms Neonatal sepsis; Intermittent thrombocytopenia;
Symptoms Increased venous marking;
Sex XY
Ethnic origin Turkey
Comment The patient has heterozygous mutation in ELANE gene
//
ID R253H(5a),R253H(5a); standard; MUTATION;
Accession G0017
Systematic name Allele 1 and 2: g.6011G>A, c.758G>A, r.758g>a, p.Arg253His
Original code V-7
Description Allele 1 and 2: A point mutation in the exon 6 leading to
Description an amino acid change
Date 12-Oct-2010 (Rel. 1, Created)
Date 12-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20717171
RefAuthors Banka, S., Chervinsky, E., Newman, W. G., Crow, Y. J.,
RefAuthors Yeganeh, S., Yacobovich, J., Donnai, D., Shalev, S.
RefTitle Further delineation of the phenotype of severe congenital
RefTitle neutropenia type 4 due to mutations in G6PC3.
RefLoc Eur J Hum Genet:f (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0135: 6011
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 994
Feature /codon: cgt -> cat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 253
Feature /change: R -> H
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0135: 6011
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 994
Feature /codon: cgt -> cat; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 253
Feature /change: R -> H
Symptoms Other clinical features: Mild learning disability;
Symptoms Recurrent pneumonia; Otitis media; perianal abscesses;
Symptoms Superficial venous patern; Varicose veins; Mild kyphosis;
Symptoms Tapering fingers; Clinodactyly;
Sex XX
Ethnic origin Israel
Relative G6PC3base; G0018 cousin
Relative G6PC3base; G0019 cousin
Relative G6PC3base; G0020
Parents Consanguineous
//
ID R253H(5b),R253H(5b); standard; MUTATION;
Accession G0018
Systematic name Allele 1 and 2: g.6011G>A, c.758G>A, r.758g>a, p.Arg253His
Original code V-13
Description Allele 1 and 2: A point mutation in the exon 6 leading to
Description an amino acid change
Date 12-Oct-2010 (Rel. 1, Created)
Date 12-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20717171
RefAuthors Banka, S., Chervinsky, E., Newman, W. G., Crow, Y. J.,
RefAuthors Yeganeh, S., Yacobovich, J., Donnai, D., Shalev, S.
RefTitle Further delineation of the phenotype of severe congenital
RefTitle neutropenia type 4 due to mutations in G6PC3.
RefLoc Eur J Hum Genet:f (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0135: 6011
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 994
Feature /codon: cgt -> cat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 253
Feature /change: R -> H
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0135: 6011
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 994
Feature /codon: cgt -> cat; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 253
Feature /change: R -> H
Symptoms Other clinical features: Failure to thrive; Agenesis of
Symptoms left kidney; Right hydronephrosis; Mild learning
Symptoms disability;Recurrent episodes of pneumonia and otitis
Symptoms media;
Sex XY
Ethnic origin Israel
Relative G6PC3base; G0017 cousin
Relative G6PC3base; G0019 cousin
Relative G6PC3base; G0020
Parents Consanguineous
//
ID R253H(5c),R253H(5c); standard; MUTATION;
Accession G0019
Systematic name Allele 1 and 2: g.6011G>A, c.758G>A, r.758g>a, p.Arg253His
Original code V-17
Description Allele 1 and 2: A point mutation in the exon 6 leading to
Description an amino acid change
Date 12-Oct-2010 (Rel. 1, Created)
Date 12-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20717171
RefAuthors Banka, S., Chervinsky, E., Newman, W. G., Crow, Y. J.,
RefAuthors Yeganeh, S., Yacobovich, J., Donnai, D., Shalev, S.
RefTitle Further delineation of the phenotype of severe congenital
RefTitle neutropenia type 4 due to mutations in G6PC3.
RefLoc Eur J Hum Genet:f (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0135: 6011
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 994
Feature /codon: cgt -> cat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 253
Feature /change: R -> H
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0135: 6011
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 994
Feature /codon: cgt -> cat; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 253
Feature /change: R -> H
Symptoms Other clinical features: Patent ductus arteriosus; Secundum
Symptoms atrial septal defect;Mild learning difficulties; Recurrent
Symptoms urinary tract infection; Herpes stomatitis;
Sex XX
Ethnic origin Israel
Relative G6PC3base; G0017 cousin
Relative G6PC3base; G0018 cousin
Relative G6PC3base; G0020
Parents Consanguineous
Comment Patient died of sepsis at age 25 years
//
ID R253H(5d),R253H(5d); standard; MUTATION;
Accession G0020
Systematic name Allele 1 and 2: g.6011G>A, c.758G>A, r.758g>a, p.Arg253His
Original code V-21
Description Allele 1 and 2: A point mutation in the exon 6 leading to
Description an amino acid change
Date 12-Oct-2010 (Rel. 1, Created)
Date 12-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20717171
RefAuthors Banka, S., Chervinsky, E., Newman, W. G., Crow, Y. J.,
RefAuthors Yeganeh, S., Yacobovich, J., Donnai, D., Shalev, S.
RefTitle Further delineation of the phenotype of severe congenital
RefTitle neutropenia type 4 due to mutations in G6PC3.
RefLoc Eur J Hum Genet:f (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0135: 6011
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 994
Feature /codon: cgt -> cat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 253
Feature /change: R -> H
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0135: 6011
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 994
Feature /codon: cgt -> cat; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 253
Feature /change: R -> H
Symptoms Other clinical features: Pulmonary valve stenosis; Patent
Symptoms ductus arteriosus; Secundum atrial septal defect;
Sex XY
Ethnic origin Israel
Relative G6PC3base; G0017
Relative G6PC3base; G0018
Relative G6PC3base; G0019
Parents Consanguineous
//
ID G260D(1),G260D(1); standard; MUTATION;
Accession G0016
Systematic name Allele 1 and 2: g.6032G>A, c.779G>A, r.779g>a, p.Gly260Asp
Original code P.3
Description Allele 1 and 2: A point mutation in the exon 6 leading to
Description an amino acid change
Date 12-Oct-2010 (Rel. 1, Created)
Date 12-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20220065
RefAuthors Germeshausen, M., Zeidler, C., Stuhrmann, M., Lanciotti,
RefAuthors M., Ballmaier, M., Welte, K.
RefTitle Digenic mutations in severe congenital neutropenia.
RefLoc Haematologica:1207-1210 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0135: 6032
Feature /change: g -> a
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 1015
Feature /codon: ggc -> gac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 260
Feature /change: G -> D
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0135: 6032
Feature /change: g -> a
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 1015
Feature /codon: ggc -> gac; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 260
Feature /change: G -> D
Symptoms Neutropenia; Thrombocytopenia; Cryptorchidism; Geniatl
Symptoms dysplasia; Microcephaly; Inner-ear hearing loss;
Symptoms Hypogammaglobulinemia; Type II atrial septal defect;
Symptoms Prominent superficial venous pattern;
Sex XY
Ethnic origin Caucasoid
Comment The patient has heterozygous mutation in HAX1 gene
//
ID G260R(1),G260R(1); standard; MUTATION;
Accession G0010
Systematic name Allele 1 and 2: g.6031G>C, c.778G>C, r.778g>c, p.Gly260Arg
Original code Indv.10
Description Allele 1 and 2: A point mutation in the exon 6 leading to
Description an amino acid change
Date 12-Oct-2010 (Rel. 1, Created)
Date 12-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19118303
RefAuthors Boztug, K., Appaswamy, G., Ashikov, A., Schaffer, A. A.,
RefAuthors Salzer, U., Diestelhorst, J., Germeshausen, M., Brandes,
RefAuthors G., Lee-Gossler, J., Noyan, F., Gatzke, A. K., Minkov, M.,
RefAuthors Greil, J., Kratz, C., Petropoulou, T., Pellier, I.,
RefAuthors Bellanne-Chantelot, C., Rezaei, N., Monkemoller, K., Irani-
RefAuthors Hakimeh, N., Bakker, H., Gerardy-Schahn, R., Zeidler, C.,
RefAuthors Grimbacher, B., Welte, K., Klein, C.
RefTitle A syndrome with congenital neutropenia and mutations in
RefTitle G6PC3.
RefLoc N Engl J Med:32-43 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0135: 6031
Feature /change: g -> c
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 1014
Feature /codon: ggc -> cgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 260
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0135: 6031
Feature /change: g -> c
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 1014
Feature /codon: ggc -> cgc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 260
Feature /change: G -> R
Symptoms Urinary tract infection; Cryptorchidism; Genital
Symptoms dysplasia; Microcephaly; inner ear hearing loss;
Symptoms Increased venous marking; Intermittent
Symptoms thrombocytopenia;
Sex XY
Ethnic origin Caucasoid; Germany
//
ID G262R(1),G262R(1); standard; MUTATION;
Accession G0008
Systematic name Allele 1 and 2: g.6037G>C, c.784G>C, r.784g>c, p.Gly262Arg
Original code Indv.8
Description Allele 1 and 2: A point mutation in the exon 6 leading to
Description an amino acid change
Date 12-Oct-2010 (Rel. 1, Created)
Date 12-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19118303
RefAuthors Boztug, K., Appaswamy, G., Ashikov, A., Schaffer, A. A.,
RefAuthors Salzer, U., Diestelhorst, J., Germeshausen, M., Brandes,
RefAuthors G., Lee-Gossler, J., Noyan, F., Gatzke, A. K., Minkov, M.,
RefAuthors Greil, J., Kratz, C., Petropoulou, T., Pellier, I.,
RefAuthors Bellanne-Chantelot, C., Rezaei, N., Monkemoller, K., Irani-
RefAuthors Hakimeh, N., Bakker, H., Gerardy-Schahn, R., Zeidler, C.,
RefAuthors Grimbacher, B., Welte, K., Klein, C.
RefTitle A syndrome with congenital neutropenia and mutations in
RefTitle G6PC3.
RefLoc N Engl J Med:32-43 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0135: 6037
Feature /change: g -> c
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 1020
Feature /codon: ggc -> cgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 262
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0135: 6037
Feature /change: g -> c
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 1020
Feature /codon: ggc -> cgc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 262
Feature /change: G -> R
Symptoms Omphalitis; Recurrent urinary tract infection;
Symptoms Oral ulcers; Urachal fistula; Microcephaly;
Symptoms Increased venous marking; Intermittent thrombocytopenia;
Sex XX
Ethnic origin Caucasoid; Germany
//
ID Q277X(1),Intron 5(1); standard; MUTATION;
Accession G0009
Systematic name Allele 1: g.6082C>T, c.829C>T, r.829c>u, p.Gln277X
Systematic name Allele 2: g.5703G>A, c.677+1G>A, r.677+1g>a
Original code Indv.9
Description Allele 1: A point mutation in the exon 6 leading to a
Description premature stop codon
Description Allele 2: A point mutation in the intron 5 leading to
Description aberrant splicing
Date 12-Oct-2010 (Rel. 1, Created)
Date 12-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19118303
RefAuthors Boztug, K., Appaswamy, G., Ashikov, A., Schaffer, A. A.,
RefAuthors Salzer, U., Diestelhorst, J., Germeshausen, M., Brandes,
RefAuthors G., Lee-Gossler, J., Noyan, F., Gatzke, A. K., Minkov, M.,
RefAuthors Greil, J., Kratz, C., Petropoulou, T., Pellier, I.,
RefAuthors Bellanne-Chantelot, C., Rezaei, N., Monkemoller, K., Irani-
RefAuthors Hakimeh, N., Bakker, H., Gerardy-Schahn, R., Zeidler, C.,
RefAuthors Grimbacher, B., Welte, K., Klein, C.
RefTitle A syndrome with congenital neutropenia and mutations in
RefTitle G6PC3.
RefLoc N Engl J Med:32-43 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0135: 6082
Feature /change: c -> t
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IdRefSeq: C0135; GI:260166681; : 1065
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 277
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0135: 5703
Feature /change: g -> a
Feature /genomic_region: intron; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Other clinical features: Upper and lower respiratory tract
Symptoms infections; Myopathy; Increased venous marking;
Sex XX
Ethnic origin Caucasoid; France
//
ID @F312X386(1),@F312X386(1); standard; MUTATION;
Accession G0011
Systematic name Allele 1 and 2: g.6188_6189insT, c.935_936insT,
Systematic name r.935_936insu, p.Asn313fsX74
Original code Indv.11
Description Allele 1 and 2: A frame shift insertion mutation in the
Description exon 6 leading to a premature stop codon
Date 12-Oct-2010 (Rel. 1, Created)
Date 12-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19118303
RefAuthors Boztug, K., Appaswamy, G., Ashikov, A., Schaffer, A. A.,
RefAuthors Salzer, U., Diestelhorst, J., Germeshausen, M., Brandes,
RefAuthors G., Lee-Gossler, J., Noyan, F., Gatzke, A. K., Minkov, M.,
RefAuthors Greil, J., Kratz, C., Petropoulou, T., Pellier, I.,
RefAuthors Bellanne-Chantelot, C., Rezaei, N., Monkemoller, K., Irani-
RefAuthors Hakimeh, N., Bakker, H., Gerardy-Schahn, R., Zeidler, C.,
RefAuthors Grimbacher, B., Welte, K., Klein, C.
RefTitle A syndrome with congenital neutropenia and mutations in
RefTitle G6PC3.
RefLoc N Engl J Med:32-43 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IdRefSeq: D0135: 6189
Feature /change: +t
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IdRefSeq: C0135; GI:260166681; : 1172
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 312
Feature /change: F ->
Feature /change: FQFPQVHPLA MPSPGPRALG SAHVQCPGST AHPLFLTSCV
Feature /change: PPFPFPPTKP TLCDHHTPGG SPIPFQPLSR PSPPX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IdRefSeq: D0135: 6189
Feature /change: +t
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IdRefSeq: C0135; GI:260166681; : 1172
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9BUM1; G6PC3_HUMAN: 312
Feature /change: F ->
Feature /change: FQFPQVHPLA MPSPGPRALG SAHVQCPGST AHPLFLTSCV
Feature /change: PPFPFPPTKP TLCDHHTPGG SPIPFQPLSR PSPPX
Symptoms Neonatal sepsis; Urinary tract infection; Patent
Symptoms ductus arteriosus;
Sex XY
Ethnic origin Iran
//
ID Deletion(1),Deletion(1); standard; MUTATION;
Accession G0013
Description Allele 1 and 2: Deletion of 1-bp resulting in the
Description frameshift and a premature stop codon
Date 12-Oct-2010 (Rel. 1, Created)
Date 12-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19696212
RefAuthors Arostegui, J. I., de Toledo, J. S., Pascal, M., Garcia,
RefAuthors C., Yague, J., Diaz de Heredia, C.
RefTitle A novel G6PC3 homozygous 1-bp deletion as a cause of
RefTitle severe congenital neutropenia.
RefLoc Blood:1718-1719 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Recurrent bacterial lung infections; bronchiectasis;
Symptoms Severe gingivitis; Bilateral cryptorchidism; Atrial
Symptoms septal defect;
Sex XY
Age 22
Ethnic origin Morocco
Parents Non-consanguineous
//
//
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