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- databases for immunodeficiency-causing mutations

   TCN2base
   Mutation registry for  Transcobalamin II deficiency


Database        TCN2base
Version         1.0
File            tcn2pub.html
Date            16-Jun-2011
Curator         Mauno Vihinen
Address         Institute of Medical Technology 
Address         FI-33014 University of Tampere, Finland
Phone           +358-3-3551 7735
Fax             +358-3-3551 7710
Email           Mauno.Vihinen@uta.fi
URL             http://bioinf.uta.fi/TCN2base/
FTP             ftp://protein.uta.fi/pub/tcn2pub.dat
IDR factfile    http://bioinf.uta.fi/xml/idr/ff/FF130.xml
Gene            TCN2
Disease         Transcobalamin II deficiency 
OMIM            275350
Sequence        IDRefSeq:D0088; IDRefSeq:C0088; UniProt:P20062 
Numbering       start of the entry
Funding         Tampere University Hospital Medical Research Fund
Funding         European Union
Comments        sequence entry reference in every entry
//
ID              #L58X85(1),#L58X85(1); standard; MUTATION;
Accession       T0004
Systematic name Allele 1 and 2: g.60260delC, c.172delC, r.172delc,
Systematic name p.Leu58fsX28
Original code   Patient WG1346
Description     Allele 1 and 2: a frame shift deletion mutation in the 
Description     exon 2 leading to a premature stop codon
Date            16-Jun-2004 (Rel. 1, Created)
Date            16-Jun-2004 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7980584
RefAuthors      Li, N., Rosenblatt, D. S., Seetharam, B.
RefTitle        Nonsense mutations in human transcobalamin II deficiency.
RefLoc          Biochem Biophys Res Commun 204:1111-1118 (1994)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0088: 60260
Feature           /change: -c
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0088: 209
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: P20062; TCO2_HUMAN: 58
Feature           /change: L -> YASPVCRLGP RKTSTCTASS LVTSSASX
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0088: 60260
Feature           /change: -c
Feature           /genomic_region: exon; 2
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0088: 209
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: P20062; TCO2_HUMAN: 58
Feature           /change: L -> YASPVCRLGP RKTSTCTASS LVTSSASX
Ethnic origin   Mongoloid
Parents         Consanguineous
//
ID              #S129X206(1),Y370X(1); standard; MUTATION;
Accession       T0005
Systematic name Allele 1: g.62284delA, c.387delA, r.387dela, p.Gln130fsX77
Systematic name Allele 2: g.72253T>G, c.1110T>G, r.1110u>g, p.Tyr370X
Original code   Patient WG1276
Description     Allele 1: a frame shift deletion mutation in the exon 3
Description     leading to a premature stop codon
Description     Allele 2: a point mutation in the exon 8 leading to a
Description     premature stop codon
Date            16-Jun-2004 (Rel. 1, Created)
Date            16-Jun-2004 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7980584
RefAuthors      Li, N., Rosenblatt, D. S., Seetharam, B.
RefTitle        Nonsense mutations in human transcobalamin II deficiency.
RefLoc          Biochem Biophys Res Commun 204:1111-1118 (1994)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0088: 62284
Feature           /change: -a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0088: 424
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: P20062; TCO2_HUMAN: 129
Feature           /change: S -> 
Feature           /change: SSSNGSWRMR REPLGMITRA TPTLATTSMA WAFWPCVSTR
Feature           /change: SGSMTAWWTN FCMLWNLSTR ATILWTQQPW QAWHSPVX
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0088: 72253
Feature           /change: t -> g
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0088: 1147
Feature           /codon: tat -> tag; 3
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: P20062; TCO2_HUMAN: 370
Feature           /change: Y -> X
//
ID              #L166X172(1),@Y380X(1); standard; MUTATION;
Accession       T0009
Systematic name Allele 1: g.63700_63701delTC, c.497_498delTC,
Systematic name r.497_498deluc, p.Leu166fsX7
Systematic name Allele 2: g.72282dupA, c.1139dupA, r.1139dupa, p.Tyr380X
Original code   P3
Description     Allele 1: A frame shift deletion mutation in the exon 4
Description     leading to a premature stop codon
Description     Allele 2: A duplication mutation in the exon 8 leading to a
Description     premature stop codon
Date            29-Jul-2010 (Rel. 1, Created)
Date            29-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20352340
RefAuthors      Schiff, M., Ogier de Baulny, H., Bard, G., Barlogis, V., 
RefAuthors      Hamel, C., Moat, S. J., Odent, S., Shortland, G., Touati, 
RefAuthors      G., Giraudier, S.
RefTitle        Should transcobalamin deficiency be treated aggressively?
RefLoc          J Inherit Metab Dis:223-229 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0088: 63700..63701
Feature           /change: -tc
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0088; GI:339195; TCN2C: 534..535
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: P20062; TCO2_HUMAN: 166
Feature           /change: L -> PPEAGPX
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: duplication
Feature           /loc: IDRefSeq: D0088: 72283
Feature           /change: +a
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0088; GI:339195; TCN2C: 1177
Feature           /codon: tac -> taa; 3
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: P20062; TCO2_HUMAN: 380
Feature           /change: Y -> X
Symptoms        Severe failure to thrive;
Age             7.5 weeks
Sex             XX
Parents         Non-consanguineous
//
ID              #L166X172(2),#L166X172(2); standard; MUTATION;
Accession       T0011
Systematic name Allele 1 and 2: g.63700_63701delTC, c.497_498delTC,
Systematic name r.497_498deluc, p.Leu166fsX7
Original code   P5
Description     Allele 1 and 2: A frame shift deletion mutation in the exon
Description     4 leading to a premature stop codon
Date            29-Jul-2010 (Rel. 1, Created)
Date            29-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20352340
RefAuthors      Schiff, M., Ogier de Baulny, H., Bard, G., Barlogis, V., 
RefAuthors      Hamel, C., Moat, S. J., Odent, S., Shortland, G., Touati, 
RefAuthors      G., Giraudier, S.
RefTitle        Should transcobalamin deficiency be treated aggressively?
RefLoc          J Inherit Metab Dis:223-229 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0088: 63700..63701
Feature           /change: -tc
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0088; GI:339195; TCN2C: 534..535
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: P20062; TCO2_HUMAN: 166
Feature           /change: L -> PPEAGPX
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0088: 63700..63701
Feature           /change: -tc
Feature           /genomic_region: exon; 4
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0088; GI:339195; TCN2C: 534..535
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: P20062; TCO2_HUMAN: 166
Feature           /change: L -> PPEAGPX
Symptoms        Chronic diarrhoea; Vomiting; Failure to thrive;
Age             1 mo
Sex             XX
Parents         Non-consanguineous
//
ID              #H167-1(1),#T372X410(1); standard; MUTATION;
Accession       T0010
Systematic name Allele 1: g.63704_63706delCCA, c.501_503delCCA,
Systematic name r.501_503delcca, p.His167del
Systematic name Allele 2: g.72258_72259delCA, c.1115_1116delCA,
Systematic name r.1115_1116delca, p.Gln373fsX38
Original code   P4
Description     Allele 1: An inframe deletion in the exon 4 leading to an
Description     amino acid change
Description     Allele 2: A frame shift deletion mutation in the exon 8
Description     leading to a premature stop codon
Date            29-Jul-2010 (Rel. 1, Created)
Date            29-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20352340
RefAuthors      Schiff, M., Ogier de Baulny, H., Bard, G., Barlogis, V., 
RefAuthors      Hamel, C., Moat, S. J., Odent, S., Shortland, G., Touati, 
RefAuthors      G., Giraudier, S.
RefTitle        Should transcobalamin deficiency be treated aggressively?
RefLoc          J Inherit Metab Dis:223-229 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0088: 63704..63706
Feature           /change: -cca
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0088; GI:339195; TCN2C: 538..540
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: deletion; inframe
Feature           /loc: UniProt: P20062; TCO2_HUMAN: 167..168
Feature           /change: HQ -> Q
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0088: 72258..72259
Feature           /change: -ca
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0088; GI:339195; TCN2C: 1152..1153
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: P20062; TCO2_HUMAN: 372
Feature           /change: T -> TGLLVRPLLN LRDGESGRRK GVLAASPRPQ HPTVARYCX
Symptoms        Pallor; Purpura; Diarrhoea;
Age             7 mo
Sex             XX
Parents         Non-consanguineous
//
ID              #C309X358(1),Deletion(1); standard; MUTATION;
Accession       T0006
Systematic name Allele 1: g.65056_65059delTCTG, c.927_930delTCTG,
Systematic name r.927_930delucug, p.Cys309fsX50
Original code   4 month old boy
Description     Allele 1: a frame shift deletion mutation in the exon 6
Description     leading to a premature stop codon
Description     Allele 2: Large undefined deletion
Date            27-Aug-2004 (Rel. 1, Created)
Date            27-Aug-2004 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7849710
RefAuthors      Li, N., Rosenblatt, D. S., Kamen, B. A., Seetharam, S., 
RefAuthors      Seetharam, B.
RefTitle        Identification of two mutant alleles of transcobalamin II 
RefTitle        in an affected family.
RefLoc          Hum Mol Genet 3:1835-1840 (1994)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0088: 65056..65059
Feature           /change: -tctg
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: IDRefSeq: C0088: 964..967
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: P20062; TCO2_HUMAN: 309..310
Feature           /change: CL -> 
Feature           /change: WHHESCWNQL LRPFLRPKRS SVSRCRCLVS CRRTDSPSLF
Feature           /change: WPGPPWKMSX
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: unknown
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Symptoms        Hypotonia, anemia, failure to thrive, hepatomegaly,
Symptoms        thrombocytopenia.
Sex             XY
Ethnic origin   Caucasoid
//
ID              R399X(1),R399X(1); standard; MUTATION;
Accession       T0012
Systematic name Allele 1 and 2: g.72338C>T, c.1195C>T, r.1195c>u, p.Arg399X
Description     Allele 1 and 2: A point mutation in the exon 8 leading to a
Description     premature stop codon
Date            29-Jul-2010 (Rel. 1, Created)
Date            29-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  18956254
RefAuthors      Prasad, C., Rosenblatt, D. S., Corley, K., Cairney, A. E., 
RefAuthors      Rupar, C. A.
RefTitle        Transcobalamin (TC) deficiency-potential cause of bone 
RefTitle        marrow failure in childhood.
RefLoc          J Inherit Metab Dis:t (2008)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0088: 72338
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0088; GI:339195; TCN2C: 1232
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: P20062; TCO2_HUMAN: 399
Feature           /change: R -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0088: 72338
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 8
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0088; GI:339195; TCN2C: 1232
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: P20062; TCO2_HUMAN: 399
Feature           /change: R -> X
Symptoms        Failure to thrive; Pancytopenia;
Age             2 mo
Sex             XY
Ethnic origin   Albania
Parents         Non-consanguineous
Comment         Patient's sibling died at 7 months age. Patient and the
Comment         sibling both were homozygous for P259R polymorphism.
//
ID              Y412X(1),Y412X(1); standard; MUTATION;
Accession       T0008
Systematic name Allele 1 and 2: g.75755_75756delCA, c.1236_1237delCA,
Systematic name r.1236_1237delca, p.Tyr412X
Original code   P2
Description     Allele 1 and 2: A deletion mutation in the exon 9 leading
Description     to a premature stop codon
Date            29-Jul-2010 (Rel. 1, Created)
Date            29-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20352340
RefAuthors      Schiff, M., Ogier de Baulny, H., Bard, G., Barlogis, V., 
RefAuthors      Hamel, C., Moat, S. J., Odent, S., Shortland, G., Touati, 
RefAuthors      G., Giraudier, S.
RefTitle        Should transcobalamin deficiency be treated aggressively?
RefLoc          J Inherit Metab Dis:223-229 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0088: 75755..75756
Feature           /change: -ca
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0088; GI:339195; TCN2C: 1273..1274
Feature           /codon: tac -> tag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: P20062; TCO2_HUMAN: 412..413
Feature           /change: YR -> X
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: deletion
Feature           /loc: IDRefSeq: D0088: 75755..75756
Feature           /change: -ca
Feature           /genomic_region: exon; 9
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0088; GI:339195; TCN2C: 1273..1274
Feature           /codon: tac -> tag; 3
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: P20062; TCO2_HUMAN: 412..413
Feature           /change: YR -> X
Symptoms        Diarrhoea; Vomiting; Failure to thrive;
Age             3 mo
Sex             XX
Parents         Non-consanguineous
//
ID              Intron 3(1a),Intron 3(1a); standard; MUTATION;
Accession       T0001
Systematic name Allele 1 and 2: g.IVS3+2T>G, c.427+2T>G, r.427+2u>g,
Original code   Case 1[Ref2]
Description     Allele 1 and 2: a point mutation in the intron 3 leading 
Description     to aberrant splicing
Date            17-Mar-2004 (Rel. 1, Created)
Date            17-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14632784
RefAuthors      Namour, F., Helfer, A. C., Quadros, E. V., Alberto, J. 
RefAuthors      M., Bibi, H. M., Orning, L., Rosenblatt, D. S., Jean-
RefAuthors      Louis, G.
RefTitle        Transcobalamin deficiency due to activation of an intra 
RefTitle        exonic cryptic splice site.
RefLoc          Br J Haematol 123:915-920 (2003)
RefNumber       [2]
RefCrossRef     PUBMED; 10518276
RefAuthors      Bibi, H., Gelman-Kohan, Z., Baumgartner, E. R., 
RefAuthors      Rosenblatt, D. S.
RefTitle        Transcobalamin II deficiency with methylmalonic aciduria 
RefTitle        in three sisters.
RefLoc          J Inherit Metab Dis 22:765-772 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0088: 62326
Feature           /change: t -> g
Feature           /genomic_region: intron; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0088: 386..466
Feature           /change: -gagtttgtca ggggccacaa gggggacagg ctggtctcac
Feature           /change:  agctcaaatg gttcctggag gatgagaaga gagccattgg g
Feature           /inexloc: +2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: deletion; inframe
Feature           /loc: UniProt: P20062; TCO2_HUMAN: 117..143
Feature           /change: -EFVRGHKGDR LVSQLKWFLE DEKRAIG
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0088: 62326
Feature           /change: t -> g
Feature           /genomic_region: intron; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0088: 386..466
Feature           /change: -gagtttgtca ggggccacaa gggggacagg ctggtctcac
Feature           /change:  agctcaaatg gttcctggag gatgagaaga gagccattgg g
Feature           /inexloc: +2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: deletion; inframe
Feature           /loc: UniProt: P20062; TCO2_HUMAN: 117..143
Feature           /change: -EFVRGHKGDR LVSQLKWFLE DEKRAIG
Sex             XX
Ethnic origin   Morocco
Parents         Consanguineous
Relative        TCN2base; T0002 sister
Relative        TCN2base; T0003 sister
//
ID              Intron 3(1b),Intron 3(1b); standard; MUTATION;
Accession       T0002
Systematic name Allele 1 and 2: g.IVS3+2T>G, c.427+2T>G, r.427+2u>g,
Original code   Case 2[Ref2]
Description     Allele 1 and 2: a point mutation in the intron 3 leading 
Description     to aberrant splicing
Date            17-Mar-2004 (Rel. 1, Created)
Date            17-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14632784
RefAuthors      Namour, F., Helfer, A. C., Quadros, E. V., Alberto, J. 
RefAuthors      M., Bibi, H. M., Orning, L., Rosenblatt, D. S., Jean-
RefAuthors      Louis, G.
RefTitle        Transcobalamin deficiency due to activation of an intra 
RefTitle        exonic cryptic splice site.
RefLoc          Br J Haematol 123:915-920 (2003)
RefNumber       [2]
RefCrossRef     PUBMED; 10518276
RefAuthors      Bibi, H., Gelman-Kohan, Z., Baumgartner, E. R., 
RefAuthors      Rosenblatt, D. S.
RefTitle        Transcobalamin II deficiency with methylmalonic aciduria 
RefTitle        in three sisters.
RefLoc          J Inherit Metab Dis 22:765-772 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0088: 62326
Feature           /change: t -> g
Feature           /genomic_region: intron; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0088: 386..466
Feature           /change: -gagtttgtca ggggccacaa gggggacagg ctggtctcac
Feature           /change:  agctcaaatg gttcctggag gatgagaaga gagccattgg g
Feature           /inexloc: +2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: deletion; inframe
Feature           /loc: UniProt: P20062; TCO2_HUMAN: 117..143
Feature           /change: -EFVRGHKGDR LVSQLKWFLE DEKRAIG
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0088: 62326
Feature           /change: t -> g
Feature           /genomic_region: intron; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0088: 386..466
Feature           /change: -gagtttgtca ggggccacaa gggggacagg ctggtctcac
Feature           /change:  agctcaaatg gttcctggag gatgagaaga gagccattgg g
Feature           /inexloc: +2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: deletion; inframe
Feature           /loc: UniProt: P20062; TCO2_HUMAN: 117..143
Feature           /change: -EFVRGHKGDR LVSQLKWFLE DEKRAIG
Sex             XX
Ethnic origin   Morocco
Parents         Consanguineous
Relative        TCN2base; T0001 sister
Relative        TCN2base; T0003 sister
//
ID              Intron 3(1c),Intron 3(1c); standard; MUTATION;
Accession       T0003
Systematic name Allele 1 and 2: g.IVS3+2T>G, c.427+2T>G, r.427+2u>g,
Original code   Case 3[Ref2]
Description     Allele 1 and 2: a point mutation in the intron 3 leading 
Description     to aberrant splicing
Date            17-Mar-2004 (Rel. 1, Created)
Date            17-Mar-2004 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14632784
RefAuthors      Namour, F., Helfer, A. C., Quadros, E. V., Alberto, J. 
RefAuthors      M., Bibi, H. M., Orning, L., Rosenblatt, D. S., Jean-
RefAuthors      Louis, G.
RefTitle        Transcobalamin deficiency due to activation of an intra 
RefTitle        exonic cryptic splice site.
RefLoc          Br J Haematol 123:915-920 (2003)
RefNumber       [2]
RefCrossRef     PUBMED; 10518276
RefAuthors      Bibi, H., Gelman-Kohan, Z., Baumgartner, E. R., 
RefAuthors      Rosenblatt, D. S.
RefTitle        Transcobalamin II deficiency with methylmalonic aciduria 
RefTitle        in three sisters.
RefLoc          J Inherit Metab Dis 22:765-772 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0088: 62326
Feature           /change: t -> g
Feature           /genomic_region: intron; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0088: 386..466
Feature           /change: -gagtttgtca ggggccacaa gggggacagg ctggtctcac
Feature           /change:  agctcaaatg gttcctggag gatgagaaga gagccattgg g
Feature           /inexloc: +2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: deletion; inframe
Feature           /loc: UniProt: P20062; TCO2_HUMAN: 117..143
Feature           /change: -EFVRGHKGDR LVSQLKWFLE DEKRAIG
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0088: 62326
Feature           /change: t -> g
Feature           /genomic_region: intron; 3
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: inframe deletion
Feature           /loc: IDRefSeq: C0088: 386..466
Feature           /change: -gagtttgtca ggggccacaa gggggacagg ctggtctcac
Feature           /change:  agctcaaatg gttcctggag gatgagaaga gagccattgg g
Feature           /inexloc: +2
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: deletion; inframe
Feature           /loc: UniProt: P20062; TCO2_HUMAN: 117..143
Feature           /change: -EFVRGHKGDR LVSQLKWFLE DEKRAIG
Sex             XX
Ethnic origin   Morocco
Parents         Consanguineous
Relative        TCN2base; T0001 sister
Relative        TCN2base; T0002 sister
//
ID              Intron 4(1),Intron 4(1); standard; MUTATION;
Accession       T0007
Systematic name Allele 1 and 2: g.63784G>C, c.580+1G>C, r.580+1g>c
Original code   P1
Description     Allele 1 and 2: A point mutation in the intron 4 leading to
Description     aberrant splicing
Date            29-Jul-2010 (Rel. 1, Created)
Date            29-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20352340
RefAuthors      Schiff, M., Ogier de Baulny, H., Bard, G., Barlogis, V., 
RefAuthors      Hamel, C., Moat, S. J., Odent, S., Shortland, G., Touati, 
RefAuthors      G., Giraudier, S.
RefTitle        Should transcobalamin deficiency be treated aggressively?
RefLoc          J Inherit Metab Dis:223-229 (2010)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0088: 63784
Feature           /change: g -> c
Feature           /genomic_region: intron; 4
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: D0088: 63784
Feature           /change: g -> c
Feature           /genomic_region: intron; 4
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        Diarrhoea; Glossitis;
Age             4 mo
Sex             XX
Parents         Consanguineous
Comment         This mutation leads to the skipping of exon 4.
//
//

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Last modified 16.06.2011