Database NPbase
Version 1.2
File nppub.txt
Date 16-Jun-2011
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics
Address Lund University, BMC D10, SE-22184 Lund, Sweden
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/NPbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF11.html
Gene NP
Disease Purine nucleoside phosphorylase deficiency
OMIM 164050
GDB 120239
Sequence IDRefSeq:D0064; IDRefSeq:C0064; UniProt:P00491
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID R24X(1),R24X(1); standard; MUTATION;
Accession N0010
Systematic name Allele 1 and 2: g.3957C>T, c.70C>T, r.70c>u, p.Arg24X
Original code a three-year-old boy[1]; Patient 9[2]
Description Allele 1 and 2: point mutation in the exon 2 leading to a
Description premature stop codon
Date 05-Jun-2003 (Rel. 1, Created)
Date 28-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9737781
RefAuthors Sasaki, Y., Iseki, M., Yamaguchi, S., Kurosawa, Y.,
RefAuthors Yamamoto, T., Moriwaki, Y., Kenri, T., Sasaki, T.,
RefAuthors Yamashita, R.
RefTitle Direct evidence of autosomal recessive inheritance of
RefTitle arg24 to termination codon in purine nucleoside
RefTitle phosphorylase gene in a family with a severe combined
RefTitle immunodeficiency patient.
RefLoc Hum Genet 103:81-85 (1998)
RefNumber [2]
RefCrossRef PUBMED; 11453975
RefAuthors Dalal, I., Grunebaum, E., Cohen, A., Roifman, C. M.
RefTitle Two novel mutations in a purine nucleoside
RefTitle phosphorylase (PNP)-deficient patient.
RefLoc Clin Genet 59:430-437 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0064: 3957
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0064: 189
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P00491; PNPH_HUMAN: 24
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0064: 3957
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0064: 189
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P00491; PNPH_HUMAN: 24
Feature /change: R -> X
Sex XY
Parents Consanguineous
Symptoms Other clinical features: recurrent urinary tract
Symptoms infections, hypouricemia, lymphopenia
//
ID R58X(1),Intron 3(2); standard; MUTATION;
Accession N0009
Systematic name Allele 1: g.4059C>T, c.172C>T, r.172c>u, p.Arg58X
Systematic name Allele 2: g.IVS3+1G>A, c.285+1G>A, r.285+1g>a
Original code R.R.
Description Allele 1: point mutation in the exon 2 leading to a
Description premature stop codon
Description Allele 2: point mutation in the intron 3 leading to
Description aberrant splicing
Date 05-Jun-2003 (Rel. 1, Created)
Date 28-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11453975
RefAuthors Dalal, I., Grunebaum, E., Cohen, A., Roifman, C. M.
RefTitle Two novel mutations in a purine nucleoside
RefTitle phosphorylase (PNP)-deficient patient.
RefLoc Clin Genet 59:430-437 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0064: 4059
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0064: 291
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P00491; PNPH_HUMAN: 58
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0064: 6167
Feature /change: g -> a
Feature /genomic_region: intron; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0064: 301..404
Feature /change: -tgccaggtca tgctggccga ctggtgtttg ggttcctgaa
Feature /change: tggcagggcc tgtgtgatga tgcagggcag gttccacatg
Feature /change: tatgaagggt acccactctg gaag
Feature /note: skipping of exon 3
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P00491; PNPH_HUMAN: 61..95
Feature /change: VPGHAGRLVF GFLNGRACVM MQGRFHMYEG YPLWK
Feature /change:
Feature /change: -> GDIPSEGFPP SGCGHPGSHQ CSRRAEPQVX
Sex XY
Ethnic origin Caucasoid/Mongoloid
Symptoms Other clinical features: severe hemolytic anemia,
Symptoms mycoplasma pneumonia, varicella foster infection, mild
Symptoms ataxia, motor retardation
IgA 3.7 mg/dL, compare with normal for age: normal
IgG 5.9 mg/dL, compare with normal for age: normal
IgM 2.4 mg/dL, compare with normal for age: normal
//
ID R58X(2),H257D(1); standard; MUTATION;
Accession N0013
Systematic name Allele 1: g.4059C>T, c.172C>T, r.172c>u, p.Arg58X
Systematic name Allele 2: g.8091C>G, c.769C>G, r.769c>g, p.His257Asp
Description Allele 1: a point mutation in the exon 2 leading to a
Description premature stop codon
Description Allele 2: a point mutation in the exon 6 leading to an
Description amino acid change
Date 20-Sep-2005 (Rel. 1, Created)
Date 28-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 15571269
RefAuthors Grunebaum, E., Zhang, J., Roifman, C. M.
RefTitle Novel mutations and hot-spots in patients with purine
RefTitle nucleoside phosphorylase deficiency.
RefLoc Nucleosides Nucleotides Nucleic Acids 23:1411-1415 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0064: 4059
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0064: 291
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P00491; PNPH_HUMAN: 58
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0064: 8091
Feature /change: c -> g
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0064: 888
Feature /codon: cat -> gat; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P00491; PNPH_HUMAN: 257
Feature /change: H -> D
//
ID V61L(1),R234P(3); standard; MUTATION;
Accession N0007
Systematic name Allele 1: g.4068G>T, c.181G>T, r.181g>u, p.Val61Leu
Systematic name Allele 2: g.8023G>C, c.701G>C, r.701g>c, p.Arg234Pro
Original code K.F.; Patient #2[2]
Description Allele 1: point mutation in the exon 2 leading to aberrant
Description splicing
Description Allele 2: point mutation in the exon 6 leading to an amino
Description acid change
Date 04-Jun-2003 (Rel. 1, Created)
Date 28-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 1560016
RefAuthors Andrews, L. G., Markert, M. L.
RefTitle Exon skipping in purine nucleoside phosphorylase mRNA
RefTitle processing leading to severe immunodeficiency.
RefLoc J Biol Chem 267:7834-7838 (1992)
RefNumber [2]
RefCrossRef PUBMED; 9067751
RefAuthors Markert, M. L., Finkel, B. D., McLaughlin, T. M., Watson,
RefAuthors T. J., Collard, H. R., McMahon, C. P., Andrews, L. G.,
RefAuthors Barrett, M. J., Ward, F. E.
RefTitle Mutations in purine nucleoside phosphorylase deficiency.
RefLoc Hum Mutat 9:118-121 (1997)
RefNumber [3]
RefCrossRef PUBMED; 3116034
RefAuthors Markert, M. L., Hershfield, M. S., Schiff, R. I., Buckley,
RefAuthors R. H.
RefTitle Adenosine deaminase and purine nucleoside phosphorylase
RefTitle deficiencies: evaluation of therapeutic interventions in
RefTitle eight patients.
RefLoc J Clin Immunol 7:389-399 (1987)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0064: 4068
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0064: 131..300
Feature /change: -atacacctat gaagattata agaacactgc agaatggctt
Feature /change: ctgtctcata ctaagcaccg acctcaagtt gcaataatct
Feature /change: gtggttctgg attaggaggt ctgactgata aattaactca
Feature /change: ggcccagatc tttgactaca gtgaaatccc caactttcct
Feature /change: cgaagtacag
Feature /note: skipping of exon 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P00491; PNPH_HUMAN: 4..61
Feature /change: GYTYEDYKNT AEWLLSHTKH RPQVAIICGS GLGGLTDKLT
Feature /change: QAQIFDYSEI PNFPRSTV
Feature /change: -> GARSCWPTGV WVPEWQGLCD DAGQVPHVX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0064: 8023
Feature /change: g -> c
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0064: 820
Feature /codon: cga -> cca; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P00491; PNPH_HUMAN: 234
Feature /change: R -> P
//
ID G71E(1),G71E(1); standard; MUTATION;
Accession N0014
Systematic name Allele 1 and 2: g.6093G>A, c.212G>A, r.212g>a, p.Gly71Glu
Original code P1
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change
Date 21-May-2008 (Rel. 1, Created)
Date 21-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18067860
RefAuthors Parvaneh, N., Teimourian, S., Jacomelli, G., Badalzadeh,
RefAuthors M., Bertelli, M., Zakharova, E., Tabatabaei, P., Parvaneh,
RefAuthors L., Pourakbari, B., Yeganeh, M., Tamizifar, B., Mamishi,
RefAuthors S., Micheli, V.
RefTitle Novel mutations of NP in two patients with purine
RefTitle nucleoside phosphorylase deficiency.
RefLoc Clin Biochem:350-352 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0064: 6093
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0064; ; NPC: 331
Feature /codon: ggg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P00491; PNPH_HUMAN: 71
Feature /change: G -> E
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0064: 6093
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0064; ; NPC: 331
Feature /codon: ggg -> gag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P00491; PNPH_HUMAN: 71
Feature /change: G -> E
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Hematological abnormalities
Symptoms Anemia
Sex XY
Ethnic origin Caucasoid; Iran
Relative
Parents Consanguineous
IgA 55 mg/dl
IgG 2500 mg/dl
IgM 35 mg/dl
//
ID E89K(1),E89K(1); standard; MUTATION;
Accession N0001
Systematic name Allele 1 and 2: g.6146G>A, c.265G>A, r.265g>a, p.Glu89Lys
Original code L.M.
Description Allele 1 and 2: point mutation in the exon 3 leading to an
Description amino acid change
Date 08-Oct-2002 (Rel. 1, Created)
Date 28-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 3029074
RefAuthors Williams, S. R., Gekeler, V., McIvor, R. S., Martin, D. W.
RefTitle A human purine nucleoside phosphorylase deficiency caused
RefTitle by a single base change.
RefLoc J Biol Chem 262:2332-2338 (1987)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0064: 6146
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0064: 384
Feature /codon: gaa -> aaa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P00491; PNPH_HUMAN: 89
Feature /change: E -> K
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0064: 6146
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0064: 384
Feature /codon: gaa -> aaa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P00491; PNPH_HUMAN: 89
Feature /change: E -> K
Protein NP mutation
Protein Defects of PNP expression
Sex XX
Parents Consanguineous
//
ID E89K(2),A174P(1); standard; MUTATION;
Accession N0003
Systematic name Allele 1: g.6146G>A, c.265G>A, r.265g>a, p.Glu89Lys
Systematic name Allele 2: g.6711G>C, c.520G>C, r.520g>c, p.Ala174Pro
Original code Patient #4
Description Allele 1: point mutation in the exon 3 leading to an amino
Description acid change
Description Allele 2: point mutation in the exon 5 leading to an amino
Description acid change
Date 08-Oct-2002 (Rel. 1, Created)
Date 28-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9067751
RefAuthors Markert, M. L., Finkel, B. D., McLaughlin, T. M., Watson,
RefAuthors T. J., Collard, H. R., McMahon, C. P., Andrews, L. G.,
RefAuthors Barrett, M. J., Ward, F. E.
RefTitle Mutations in purine nucleoside phosphorylase deficiency.
RefLoc Hum Mutat 9:118-121 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0064: 6146
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0064: 384
Feature /codon: gaa -> aaa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P00491; PNPH_HUMAN: 89
Feature /change: E -> K
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0064: 6711
Feature /change: g -> c
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0064: 639
Feature /codon: gct -> cct; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P00491; PNPH_HUMAN: 174
Feature /change: A -> P
//
ID A117T(1),A117T(1); standard; MUTATION;
Accession N0012
Systematic name Allele 1 and 2: g.6427G>A, c.349G>A, r.349g>a, p.Ala117Thr
Original code One of the patients
Description Allele 1 and 2: a point mutation in the exon 4 leading to
Description an amino acid change
Date 19-Sep-2005 (Rel. 1, Created)
Date 28-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 15571269
RefAuthors Grunebaum, E., Zhang, J., Roifman, C. M.
RefTitle Novel mutations and hot-spots in patients with purine
RefTitle nucleoside phosphorylase deficiency.
RefLoc Nucleosides Nucleotides Nucleic Acids 23:1411-1415 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0064: 6427
Feature /change: g -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0064: 468
Feature /codon: gca -> aca; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P00491; PNPH_HUMAN: 117
Feature /change: A -> T
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0064: 6427
Feature /change: g -> a
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0064: 468
Feature /codon: gca -> aca; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P00491; PNPH_HUMAN: 117
Feature /change: A -> T
//
ID D128G(1),R234P(2); standard; MUTATION;
Accession N0006
Systematic name Allele 1: g.6461A>G, c.383A>G, r.383a>g, p.Asp128Gly
Systematic name Allele 2: g.8023G>C, c.701G>C, r.701g>c, p.Arg234Pro
Original code Patient #3
Description Allele 1: point mutation in the exon 4 leading to an amino
Description acid change
Description Allele 2: point mutation in the exon 6 leading to an amino
Description acid change
Date 09-Oct-2002 (Rel. 1, Created)
Date 28-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 1384322
RefAuthors Aust, M. R., Andrews, L. G., Barrett, M. J., Norby-
RefAuthors Slycord, C. J., Markert, M. L.
RefTitle Molecular analysis of mutations in a patient with purine
RefTitle nucleoside phosphorylase deficiency.
RefLoc Am J Hum Genet 51:763-772 (1992)
RefNumber [2]
RefCrossRef PUBMED; 9067751
RefAuthors Markert, M. L., Finkel, B. D., McLaughlin, T. M., Watson,
RefAuthors T. J., Collard, H. R., McMahon, C. P., Andrews, L. G.,
RefAuthors Barrett, M. J., Ward, F. E.
RefTitle Mutations in purine nucleoside phosphorylase deficiency.
RefLoc Hum Mutat 9:118-121 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0064: 6461
Feature /change: a -> g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0064: 502
Feature /codon: gat -> ggt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P00491; PNPH_HUMAN: 128
Feature /change: D -> G
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0064: 8023
Feature /change: g -> c
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0064: 820
Feature /codon: cga -> cca; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P00491; PNPH_HUMAN: 234
Feature /change: R -> P
//
ID #I129-1(1),R234P(1); standard; MUTATION;
Accession N0005
Systematic name Allele 1: g.6463_6465delATC, c.385_387delATC,
Systematic name r.385_387delauc, p.Ile129del
Systematic name Allele 2: g.8023G>C, c.701G>C, r.701g>c, p.Arg234Pro
Original code Patient #6
Description Allele 1: deletion in the exon 4 leading to an amino acid
Description change
Description Allele 2: point mutation in the exon 6 leading to an amino
Description acid change
Date 09-Oct-2002 (Rel. 1, Created)
Date 28-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9067751
RefAuthors Markert, M. L., Finkel, B. D., McLaughlin, T. M., Watson,
RefAuthors T. J., Collard, H. R., McMahon, C. P., Andrews, L. G.,
RefAuthors Barrett, M. J., Ward, F. E.
RefTitle Mutations in purine nucleoside phosphorylase deficiency.
RefLoc Hum Mutat 9:118-121 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0064: 6463..6465
Feature /change: -atc
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0064: 504..506
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P00491; PNPH_HUMAN: 129
Feature /change: -I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0064: 8023
Feature /change: g -> c
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0064: 820
Feature /codon: cga -> cca; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P00491; PNPH_HUMAN: 234
Feature /change: R -> P
//
ID G156A(1),G156A(1); standard; MUTATION;
Accession N0011
Systematic name Allele 1 and 2: g.6658G>C, c.467G>C, r.467g>c, p.Gly156Ala
Original code Bahamian Black girl
Description Allele 1 and 2: point mutation in the exon 5 leading to an
Description amino acid change
Date 05-Jun-2003 (Rel. 1, Created)
Date 28-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 12483996
RefAuthors Moallem, H. J., Taningo, G., Jiang, C. K., Hirschhorn, R.,
RefAuthors Fikrig, S.
RefTitle Purine nucleoside phosphorylase deficiency: a new case
RefTitle report and identification of two novel
RefTitle mutations (gly156A1a and val217Ile), only one of
RefTitle which (gly156A1a) is deleterious.
RefLoc Clin Immunol 105:75-80 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0064: 6658
Feature /change: g -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0064: 586
Feature /codon: gga -> gca; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P00491; PNPH_HUMAN: 156
Feature /change: G -> A
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0064: 6658
Feature /change: g -> c
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0064: 586
Feature /codon: gga -> gca; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P00491; PNPH_HUMAN: 156
Feature /change: G -> A
Sex XX
Ethnic origin Negroid; Bahamas
Status quo Deceased
Symptoms Hematological abnormalities
Symptoms Anemia
Symptoms Other clinical features: some psychomotor developmental
Symptoms delay, extensive mucocutaneous candidiasis, marked
Symptoms developmental delay, lymphopenia, pancytopenia, hemolytic
Symptoms anemia, marked hypotonia of her upper and lower
Symptoms extremities with brisk reflexes. Her tonsils were absent
Symptoms and lymph nodes were not palpable
Treatment IVIG: constant
//
ID F159V(2),F159V(2); standard; MUTATION;
Accession N0015
Systematic name Allele 1 and 2: g.6666T>G, c.475T>G, r.475u>g, p.Phe159Val
Original code P2
Description Allele 1 and 2: A point mutation in the exon 5 leading to
Description an amino acid change
Date 21-May-2008 (Rel. 1, Created)
Date 21-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18067860
RefAuthors Parvaneh, N., Teimourian, S., Jacomelli, G., Badalzadeh,
RefAuthors M., Bertelli, M., Zakharova, E., Tabatabaei, P., Parvaneh,
RefAuthors L., Pourakbari, B., Yeganeh, M., Tamizifar, B., Mamishi,
RefAuthors S., Micheli, V.
RefTitle Novel mutations of NP in two patients with purine
RefTitle nucleoside phosphorylase deficiency.
RefLoc Clin Biochem:350-352 (2008)
RefNumber [2]
RefCrossRef PUBMED; 16949240
RefAuthors Parvaneh, N., Ashrafi, M. R., Yeganeh, M., Pouladi, N.,
RefAuthors Sayarifar, F., Parvaneh, L.
RefTitle Progressive multifocal leukoencephalopathy in purine
RefTitle nucleoside phosphorylase deficiency.
RefLoc Brain Dev:124-126 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0064: 6666
Feature /change: t -> g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0064; ; NPC: 594
Feature /codon: ttc -> gtc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P00491; PNPH_HUMAN: 159
Feature /change: F -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0064: 6666
Feature /change: t -> g
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0064; ; NPC: 594
Feature /codon: ttc -> gtc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P00491; PNPH_HUMAN: 159
Feature /change: F -> V
Status quo Deceased; cause of death: cardiac arrest
Symptoms Lower respiratory tract infections
Symptoms Autoimmune manifestations
Symptoms Arthritis
Sex XY
Ethnic origin Caucasoid; Iran
Relative
Parents Consanguineous
IgG 500 mg/dl
Treatment No bone marrow transplantation
//
ID S163P(1),S163P(1); standard; MUTATION;
Accession N0016
Systematic name Allele 1 and 2: g.6678T>C, c.487T>C, r.487u>c, p.Ser163Pro
Original code M.S.
Description Allele 1 and 2: A point mutation in the exon 5 leading to
Description an amino acid change
Date 26-Jul-2010 (Rel. 1, Created)
Date 26-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19733163
RefAuthors Al-Saud, B., Alsmadi, O., Al-Muhsen, S., Al-Ghonaium, A.,
RefAuthors Al-Dhekri, H., Arnaout, R., Hershfield, M. S., Al-Mousa,
RefAuthors H.
RefTitle A novel mutation in purine nucleoside phosphorylase in a
RefTitle child with normal uric acid levels.
RefLoc Clin Biochem:1725-1727 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0064: 6678
Feature /change: t -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0064; ; NPC: 606
Feature /codon: tct -> cct; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P00491; PNPH_HUMAN: 163
Feature /change: S -> P
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0064: 6678
Feature /change: t -> c
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0064; ; NPC: 606
Feature /codon: tct -> cct; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P00491; PNPH_HUMAN: 163
Feature /change: S -> P
Symptoms Other clinical features: Chest infection; Ear infection;
Symptoms Axial hypotonia; Leukopenia; Neutropenia; Lymphopenia;
Symptoms Anemia;
Sex XY
Ethnic origin Saudi Arabia
Parents Consanguineous
Comment Patient's first sister died at age 3 years.
Comment Patient'ssecond sister carried the same homozygous
Comment mutation and died at age 3 years.
//
ID G190V(1),G190V(1); standard; MUTATION;
Accession N0004
Systematic name Allele 1 and 2: g.6760G>T, c.569G>T, r.569g>u, p.Gly190Val
Original code Patient #5
Description Allele 1 and 2: point mutation in the exon 5 leading to an
Description amino acid change
Date 09-Oct-2002 (Rel. 1, Created)
Date 28-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9067751
RefAuthors Markert, M. L., Finkel, B. D., McLaughlin, T. M., Watson,
RefAuthors T. J., Collard, H. R., McMahon, C. P., Andrews, L. G.,
RefAuthors Barrett, M. J., Ward, F. E.
RefTitle Mutations in purine nucleoside phosphorylase deficiency.
RefLoc Hum Mutat 9:118-121 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0064: 6760
Feature /change: g -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0064: 688
Feature /codon: ggc -> gtc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P00491; PNPH_HUMAN: 190
Feature /change: G -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0064: 6760
Feature /change: g -> t
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0064: 688
Feature /codon: ggc -> gtc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P00491; PNPH_HUMAN: 190
Feature /change: G -> V
//
ID Y192C(1),#K244X261(1); standard; MUTATION;
Accession N0002
Systematic name Allele 1: g.6766A>G, c.575A>G, r.575a>g, p.Tyr192Cys
Systematic name Allele 2: g.8052delA, c.730delA, r.730dela, p.Lys244fsX18
Original code O.C.
Description Allele 1: point mutation in the exon 5 leading to an amino
Description acid change
Description Allele 2: frameshift deletion in the exon 6 leading to a
Description premature stop codon
Date 08-Oct-2002 (Rel. 1, Created)
Date 28-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 8931706
RefAuthors Pannicke, U., Tuchschmid, P., Friedrich, W., Bartram, C.
RefAuthors R., Schwarz, K.
RefTitle Two novel missense and frameshift mutations in exons 5 and
RefTitle 6 of the purine nucleoside phosphorylase (PNP) gene in a
RefTitle severe combined immunodeficiency (SCID) patient.
RefLoc Hum Genet 98:706-709 (1996)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0064: 6766
Feature /change: a -> g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0064: 694
Feature /codon: tat -> tgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P00491; PNPH_HUMAN: 192
Feature /change: Y -> C
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0064: 8052
Feature /change: -a
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0064: 849
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P00491; PNPH_HUMAN: 244
Feature /change: K -> RSSWIMKAWR RPTMKKSX
Protein NP mutation
Protein Defects of PNP expression
Sex XX
Parents Non-consanguineous
Status quo Deceased; cause of death: severe systemic adenovirus
Status quo infection
Symptoms Lower respiratory tract infections
Symptoms Sepsis
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Other clinical features: large lymphoma due to EBV
Symptoms infection
//
ID R234P(4),Intron 3(1); standard; MUTATION;
Accession N0008
Systematic name Allele 1: g.8023G>C, c.701G>C, r.701g>c, p.Arg234Pro
Systematic name Allele 2: g.IVS3-18G>A, c.286-18G>A, r.[286-16_286-1ins; Systematic name 286-18g>a]
Original code Patient #7
Description Allele 1: point mutation in the exon 6 leading to amino
Description acid change
Description Allele 2: point mutation in the intron 3 leading to
Description aberrant splicing
Date 05-Jun-2003 (Rel. 1, Created)
Date 28-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9067751
RefAuthors Markert, M. L., Finkel, B. D., McLaughlin, T. M., Watson,
RefAuthors T. J., Collard, H. R., McMahon, C. P., Andrews, L. G.,
RefAuthors Barrett, M. J., Ward, F. E.
RefTitle Mutations in purine nucleoside phosphorylase deficiency.
RefLoc Hum Mutat 9:118-121 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0064: 8023
Feature /change: g -> c
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0064: 820
Feature /codon: cga -> cca; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P00491; PNPH_HUMAN: 234
Feature /change: R -> P
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0064: 6346
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: insertion; frameshift
Feature /loc: IDRefSeq: C0064: 405
Feature /change: +attgtttgct tcgaag
Feature /inexloc: -18
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P00491; PNPH_HUMAN: 96
Feature /change: V -> IVCFEGDIPS EGFPPSGCGH PGSHQCSRRA EPQVX
//
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