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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