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Index > Protein center > COL3A1(Gene name) > Human
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  • COL3A1 (Gene name),
  • Collagen alpha-1(III) chain (Protein name ),  CO3A1_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • 3D
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Related Databases
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  • Gene name:
    COL3A1;
    Protein name:
    Collagen alpha-1(III) chain;
    Alternative:

    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Trimers of identical alpha 1(III) chains. The chains are linked to each other by interchain disulfide bonds. Trimers are also cross-linked via hydroxylysines.
    Function:
    Collagen type III occurs in most soft connective tissues along with type I collagen.
    Subcellular Location:
    Secreted extracellular space extracellular matrix
    Protein Attributes:
    Sequence length:
    1466
    Sequence:
    50:
    MMSFVQKGSW | LLLALLHPTI | ILAQQEAVEG | GCSHLGQSYA | DRDVWKPEPC | 
    100:
    QICVCDSGSV | LCDDIICDDQ | ELDCPNPEIP | FGECCAVCPQ | PPTAPTRPPN | 
    150:
    GQGPQGPKGD | PGPPGIPGRN | GDPGIPGQPG | SPGSPGPPGI | CESCPTGPQN | 
    200:
    YSPQYDSYDV | KSGVAVGGLA | GYPGPAGPPG | PPGPPGTSGH | PGSPGSPGYQ | 
    250:
    GPPGEPGQAG | PSGPPGPPGA | IGPSGPAGKD | GESGRPGRPG | ERGLPGPPGI | 
    300:
    KGPAGIPGFP | GMKGHRGFDG | RNGEKGETGA | PGLKGENGLP | GENGAPGPMG | 
    350:
    PRGAPGERGR | PGLPGAAGAR | GNDGARGSDG | QPGPPGPPGT | AGFPGSPGAK | 
    400:
    GEVGPAGSPG | SNGAPGQRGE | PGPQGHAGAQ | GPPGPPGING | SPGGKGEMGP | 
    450:
    AGIPGAPGLM | GARGPPGPAG | ANGAPGLRGG | AGEPGKNGAK | GEPGPRGERG | 
    500:
    EAGIPGVPGA | KGEDGKDGSP | GEPGANGLPG | AAGERGAPGF | RGPAGPNGIP | 
    550:
    GEKGPAGERG | APGPAGPRGA | AGEPGRDGVP | GGPGMRGMPG | SPGGPGSDGK | 
    600:
    PGPPGSQGES | GRPGPPGPSG | PRGQPGVMGF | PGPKGNDGAP | GKNGERGGPG | 
    650:
    GPGPQGPPGK | NGETGPQGPP | GPTGPGGDKG | DTGPPGPQGL | QGLPGTGGPP | 
    700:
    GENGKPGEPG | PKGDAGAPGA | PGGKGDAGAP | GERGPPGLAG | APGLRGGAGP | 
    750:
    PGPEGGKGAA | GPPGPPGAAG | TPGLQGMPGE | RGGLGSPGPK | GDKGEPGGPG | 
    800:
    ADGVPGKDGP | RGPTGPIGPP | GPAGQPGDKG | EGGAPGLPGI | AGPRGSPGER | 
    850:
    GETGPPGPAG | FPGAPGQNGE | PGGKGERGAP | GEKGEGGPPG | VAGPPGGSGP | 
    900:
    AGPPGPQGVK | GERGSPGGPG | AAGFPGARGL | PGPPGSNGNP | GPPGPSGSPG | 
    950:
    KDGPPGPAGN | TGAPGSPGVS | GPKGDAGQPG | EKGSPGAQGP | PGAPGPLGIA | 
    1000:
    GITGARGLAG | PPGMPGPRGS | PGPQGVKGES | GKPGANGLSG | ERGPPGPQGL | 
    1050:
    PGLAGTAGEP | GRDGNPGSDG | LPGRDGSPGG | KGDRGENGSP | GAPGAPGHPG | 
    1100:
    PPGPVGPAGK | SGDRGESGPA | GPAGAPGPAG | SRGAPGPQGP | RGDKGETGER | 
    1150:
    GAAGIKGHRG | FPGNPGAPGS | PGPAGQQGAI | GSPGPAGPRG | PVGPSGPPGK | 
    1200:
    DGTSGHPGPI | GPPGPRGNRG | ERGSEGSPGH | PGQPGPPGPP | GAPGPCCGGV | 
    1250:
    GAAAIAGIGG | EKAGGFAPYY | GDEPMDFKIN | TDEIMTSLKS | VNGQIESLIS | 
    1300:
    PDGSRKNPAR | NCRDLKFCHP | ELKSGEYWVD | PNQGCKLDAI | KVFCNMETGE | 
    1350:
    TCISANPLNV | PRKHWWTDSS | AEKKHVWFGE | SMDGGFQFSY | GNPELPEDVL | 
    1400:
    DVHLAFLRLL | SSRASQNITY | HCKNSIAYMD | QASGNVKKAL | KLMGSNEGEF | 
    1450:
    KAEGNSKFTY | TVLEDGCTKH | TGEWSKTVFE | YRTRKAVRLP | IVDIAPYDIG | 
    1466:
    GPDQEFGVDV | GPVCFL
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
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    Related Databases
    Pfam:
    SMR:
    KEGG:
    String:
    UniGene:
    MIM:
    Uniprot:
     
    FOR
    ELISA Kit for Human Collagen alpha-1(III) chain
    Cat.:
    E0176c
    Price:
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    MSDS:
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    Packing:
    96T
    ELISA Kit for Human Collagen alpha-1(III) chain
    Cat.:
    E0176r
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    MSDS:
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    Packing:
    96T
    Range:
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    ELISA Kit for Human Collagen alpha-1(III) chain
    Cat.:
    E0176m
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    MSDS:
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    Packing:
    96T
    Range:
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    ELISA Kit for Human Collagen alpha-1(III) chain
    Cat.:
    E0176h
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    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
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    ELISA Kit for Human Collagen alpha-1(III) chain
    Cat.:
    E0176b
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Collagen alpha-1(III) chain
    Cat.:
    U0176h
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    CLIA Kit for Human Collagen alpha-1(III) chain
    Cat.:
    U0176m
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Collagen alpha-1(III) chain
    Cat.:
    U0176c
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Collagen alpha-1(III) chain
    Cat.:
    U0176r
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Collagen alpha-1(III) chain
    Cat.:
    U0176b
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Polyclonal Antibody for Human Collagen alpha-1(III) chain
    Polyclonal Antibody for Human Collagen alpha-1(III) chain
    Cat.:
    P0176Rb-h
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Collagen alpha-1(III) chain
    Cat.:
    P0176Rb-m
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Collagen alpha-1(III) chain
    Polyclonal Antibody for Human Collagen alpha-1(III) chain
    Cat.:
    P0176Rb-r
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Monoclonal Antibody for Human Collagen alpha-1(III) chain
    Monoclonal Antibody for Human Collagen alpha-1(III) chain
    Monoclonal Antibody for Human Collagen alpha-1(III) chain
    Monoclonal Antibody for Human Collagen alpha-1(III) chain
    Monoclonal Antibody for Human Collagen alpha-1(III) chain
    Protein for Human Collagen alpha-1(III) chain
    Protein for Human Collagen alpha-1(III) chain
    Protein for Human Collagen alpha-1(III) chain
    Protein for Human Collagen alpha-1(III) chain
    Protein for Human Collagen alpha-1(III) chain

    R&D Technical Data
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    Precision
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    Recovery
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    Linearity
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    Citations
    References
    1. 1.
      "Structure of cDNA clones coding for the entire prepro alpha 1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences."
      Ala-Kokko L. , Kontusaari S. , Baldwin C.T. , Kuivaniemi H. , Prockop D.J.
      Biochem. J.260:509-516(1989) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);VARIANT GLN-1353
      tissue: Skin fibroblast.
    2. 2.
      "Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2 has evolved differently than the other minor fibrillar collagen genes."
      Valkkila M. , Melkoniemi M. , Kvist L. , Kuivaniemi H. , Tromp G. , Ala-Kokko L.
      Matrix Biol.20:357-366(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1);VARIANT GLN-1353
    3. 3.
      Fang H.
      Submitted (2013-01) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANT ARG-726
    4. 4.
      NHLBI resequencing and genotyping service (RS&G)
      Submitted (2009-09) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
    5. 5.
      "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W. , Graves T.A. , Fulton R.S. , Fulton L.A. , Pepin K.H. , Minx P. , Wagner-McPherson C. , Layman D. , Wylie K. , Sekhon M. , Becker M.C. , Fewell G.A. , Delehaunty K.D. , Miner T.L. , Nash W.E. , Kremitzki C. , Oddy L. , Du H. , more...
      Nature434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    6. 6.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA];VARIANT GLN-1353
    7. 7.
      "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2);VARIANT GLN-1353
      tissue: Liver.
    8. 8.
      "Cloning and analysis of the 5' portion of the human type-III procollagen gene (COL3A1)."
      Benson-Chanda V. , Su M.W. , Weil D. , Chu M.-L. , Ramirez F.
      Gene78:255-265(1989) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-176
    9. 9.
      "Nucleotide sequence of a cDNA coding for the amino-terminal region of human prepro alpha 1(III) collagen."
      Toman D. , Ricca G. , de Crombrugghe B.
      Nucleic Acids Res.16:7201-7201(1988) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-170 (ISOFORMS 1/2)
      tissue: Placenta.
    10. 10.
      "Nucleotide and amino acid sequences of the entire human alpha 1 (III) collagen."
      Janeczko R.A. , Ramirez F.
      Nucleic Acids Res.17:6742-6742(1989) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 149-1225 (ISOFORM 1)
    11. 11.
      "Covalent structure of collagen: amino acid sequence of cyanogen bromide peptides from the amino-terminal segment of type III collagen of human liver."
      Seyer J.M. , Kang A.H.
      Biochemistry16:1158-1164(1977) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 168-398;HYDROXYLATION
    12. 12.
      Seyer J.M.
      Submitted (1977-12) to the PIR data bank
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SEQUENCE REVISION
    13. 13.
      "Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring."
      Milewicz D.M. , Witz A.M. , Smith A.C. , Manchester D.K. , Waldstein G. , Byers P.H.
      Am. J. Hum. Genet.53:62-70(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 186-194 (ISOFORMS 1/2)
    14. 14.
      "Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix."
      Chiodo A.A. , Sillence D.O. , Cole W.G. , Bateman J.F.
      Biochem. J.311:939-943(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 302-423 (ISOFORMS 1/2)
    15. 15.
      "Onco-fetal/laminin-binding collagen from colon carcinoma: detection of new sequences."
      Minafra I.P. , Andriolo M. , Basirico L. , Aquino A. , Minafra S. , Boutillon M.-M. , van der Rest M.
      Biochem. Biophys. Res. Commun.207:852-859(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 395-416; 579-595; 800-814 AND 1064-1079
      tissue: Colon carcinoma.
    16. 16.
      "Covalent structure of collagen: amino acid sequence of five consecutive CNBr peptides from type III collagen of human liver."
      Seyer J.M. , Kang A.H.
      Biochemistry17:3404-3411(1978) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 399-727
    17. 17.
      "G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV."
      Lee B. , Vitale E. , Superti-Furga A. , Steinmann B. , Ramirez F.
      J. Biol. Chem.266:5256-5259(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 537-605
    18. 18.
      "Covalent structure of collagen: amino acid sequence of alpha 1 (III)-CB5 from type III collagen of human liver."
      Seyer J.M. , Mainardi C. , Kang A.H.
      Biochemistry19:1583-1589(1980) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 728-964
    19. 19.
      "A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV."
      Cole W.G. , Chiodo A.A. , Lamande S.R. , Janeczko R. , Ramirez F. , Dahl H.-H.M. , Chan D. , Bateman J.F.
      J. Biol. Chem.265:17070-17077(1990) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 861-1015 (ISOFORM 1)
    20. 20.
      "Human pro alpha 1(III) collagen: cDNA sequence for the 3' end."
      Mankoo B.S. , Dalgleish R.
      Nucleic Acids Res.16:2337-2337(1988) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 950-1466 (ISOFORM 1);VARIANT GLN-1353
    21. 21.
      "Human type III collagen 'variant' is a cDNA cloning artefact."
      Molyneux K. , Dalgleish R.
      Nucleic Acids Res.16:11833-11833(1988) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SEQUENCE REVISION TO 1184
    22. 22.
      "Covalent structure of collagen: amino acid sequence of alpha 1(III)-CB9 from type III collagen of human liver."
      Seyer J.M. , Kang A.H.
      Biochemistry20:2621-2627(1981) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 965-1200;HYDROXYLATION
    23. 23.
      "Molecular cloning and carboxyl-propeptide analysis of human type III procollagen."
      Loidl H.R. , Brinker J.M. , May M. , Pihlajaniemi T. , Morrow S. , Rosenbloom J. , Myers J.C.
      Nucleic Acids Res.12:9383-9394(1984) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1065-1466 (ISOFORM 1)
    24. 24.
      "Human type III collagen gene expression is coordinately modulated with the type I collagen genes during fibroblast growth."
      Miskulin M. , Dalgleish R. , Kluve-Beckerman B. , Rennard S.I. , Tolstoshev P. , Brantly M. , Crystal R.G.
      Biochemistry25:1408-1413(1986) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1161-1200 (ISOFORMS 1/2)
    25. 25.
      "Human alpha 1(III) and alpha 2(V) procollagen genes are located on the long arm of chromosome 2."
      Emanuel B.S. , Cannizzaro L.A. , Seyer J.M. , Myers J.C.
      Proc. Natl. Acad. Sci. U.S.A.82:3385-3389(1985) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1165-1196 (ISOFORMS 1/2)
    26. 26.
      "Isolation of cDNA and genomic clones encoding human pro-alpha 1 (III) collagen. Partial characterization of the 3' end region of the gene."
      Chu M.-L. , Weil D. , de Wet W.J. , Bernard M.P. , Sippola M. , Ramirez F.
      J. Biol. Chem.260:4357-4363(1985) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1122-1466 (ISOFORMS 1/2);VARIANT GLN-1353
    27. 27.
      "Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels."
      Kuivaniemi H. , Tromp G. , Prockop D.J.
      Hum. Mutat.9:300-315(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
    28. 28.
      "Crystal structure of human type III collagen Gly991-Gly1032 cystine knot-containing peptide shows both 7/2 and 10/3 triple helical symmetries."
      Boudko S.P. , Engel J. , Okuyama K. , Mizuno K. , Bachinger H.P. , Schumacher M.A.
      J. Biol. Chem.283:32580-32589(2008) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 1158-1199;INTERCHAIN DISULFIDE BONDS
    29. 29.
      "Structural basis of fibrillar collagen trimerization and related genetic disorders."
      Bourhis J.M. , Mariano N. , Zhao Y. , Harlos K. , Exposito J.Y. , Jones E.Y. , Moali C. , Aghajari N. , Hulmes D.J.
      Nat. Struct. Mol. Biol.19:1031-1036(2012) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (1.68 ANGSTROMS) OF 1222-1466;PROPEPTIDE;DISULFIDE BONDS;CALCIUM-BINDING SITES
    30. 30.
      "Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms."
      Tromp G. , Wu Y. , Prockop D.J. , Madhatheri S.L. , Kleinert C. , Earley J.J. , Zhuang J. , Noerrgaard O. , Darling R.C. , Abbott W.M. , Cole C.W. , Jaakkola P. , Ryynaenen M. , Pearce W.H. , Yao J.S.T. , Majamaa K. , Smullens S.N. , Gatalica Z. , more...
      J. Clin. Invest.91:2539-2545(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AAA ARG-303;VARIANT THR-668
    31. 31.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT THR-698
    32. 32.
      "A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms."
      Kontusaari S. , Tromp G. , Kuivaniemi H. , Romanic A.M. , Prockop D.J.
      J. Clin. Invest.86:1465-1473(1990) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AAA ARG-786
    33. 33.
      "A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV."
      Richards A.J. , Lloyd J.C. , Narcisi P. , Ward P.N. , Nicholls A.C. , De Paepe A. , Pope F.M.
      Hum. Genet.88:325-330(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EDS4 830-PRO--PRO-838 DEL
    34. 34.
      "The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IV."
      Richards A.J. , Narcisi P. , Lloyd J.C. , Ferguson C. , Pope F.M.
      J. Med. Genet.30:690-693(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EDS4 ARG-828
    35. 35.
      "A single base mutation that substitutes serine for glycine 790 of the alpha 1 (III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV."
      Tromp G. , Kuivaniemi H. , Shikata H. , Prockop D.J.
      J. Biol. Chem.264:1349-1352(1989) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EDS4 SER-957
    36. 36.
      "Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV."
      Tromp G. , de Paepe A. , Nuytinck L. , Madhatheri S.L. , Kuivaniemi H.
      Hum. Mutat.5:179-181(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EDS4 VAL-960
    37. 37.
      "A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation."
      Richards A.J. , Ward P.N. , Narcisi P. , Nicholls A.C. , Lloyd J.C. , Pope F.M.
      Hum. Genet.89:414-418(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EDS4 GLU-1014
    38. 38.
      "Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV."
      Tromp G. , Kuivaniemi H. , Stolle C.A. , Pope F.M. , Prockop D.J.
      J. Biol. Chem.264:19313-19317(1989) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EDS4 ASP-1050
    39. 39.
      "Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV."
      Kontusaari S. , Tromp G. , Kuivaniemi H. , Ladda R.L. , Prockop D.J.
      Am. J. Hum. Genet.47:112-120(1990) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AAA ARG-786
    40. 40.
      "Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV."
      Richards A.J. , Lloyd J.C. , Ward P.N. , de Paepe A. , Narcisi P. , Pope F.M.
      J. Med. Genet.28:458-463(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EDS4 VAL-1077
    41. 41.
      "A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis."
      Johnson P.H. , Richards A.J. , Pope F.M. , Hopkinson D.A.
      J. Inherit. Metab. Dis.15:426-430(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EDS4 GLU-1173
    42. 42.
      "Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother."
      Kontusaari S. , Tromp G. , Kuivaniemi H. , Stolle C.A. , Pope F.M. , Prockop D.J.
      Am. J. Hum. Genet.51:497-507(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EDS4 ASP-1185
    43. 43.
      "Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV."
      Narcisi P. , Wu Y. , Tromp G. , Earley J.J. , Richards A.J. , Pope F.M. , Kuivaniemi H.
      Am. J. Med. Genet.46:278-283(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EDS4 GLU-1188
    44. 44.
      "Substitution of glycines 1000, 1003 and 1006 in type III collagen all cause the acrogeric form of EDS-IV, and destabilise the collagen triple helix."
      Richards A.J. , Narcisi P. , Lloyd J.C. , Johnson P.H. , Hopkinson D.A. , Pope F.M.
      Matrix13:47-47(1993)
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EDS4 VAL-1167; ASP-1170 AND GLU-1173
    45. 45.
      "Exclusion of mutations in the gene for type III collagen (COL3A1) as a common cause of intracranial aneurysms or cervical artery dissections: results from sequence analysis of the coding sequences of type III collagen from 55 unrelated patients."
      Kuivaniemi H. , Prockop D.J. , Wu Y. , Madhatheri S.L. , Kleinert C. , Earley J.J. , Jokinen A. , Stolle C.A. , Majamaa K. , Mylllylae V.V. , Noerrgaard O. , Schievink W.I. , Mokri B. , Fukawa O. , Ter Berg J.W.M. , de Paepe A. , Lozano A.M. , Leblanc R. , more...
      Neurology43:2652-2658(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS THR-602 AND LEU-635
    46. 46.
      "Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers-Danlos syndrome type IV."
      Madhatheri S.L. , Tromp G. , Gustavson K.H. , Kuivaniemi H.
      Hum. Mol. Genet.3:511-512(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EDS4 GLU-756
    47. 47.
      "A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637-to-serine substitution in type III collagen."
      Narcisi P. , Richards A.J. , Ferguson S.D. , Pope F.M.
      Hum. Mol. Genet.3:1617-1620(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EDS3 SER-804
    48. 48.
      "Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV."
      Nuytinck L. , De Paepe A. , Renard J.P. , Adriaens F. , Leroy J.
      Hum. Mutat.3:268-274(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EDS4 VAL-1176
    49. 49.
      "Marked heterogeneity in COL3A1 mutations that produce the EDS type IV phenotype."
      Goldstein J.A. , Schwarze U. , Witz A. , Byers P.H.
      Matrix Biol.14:392-393(1994)
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EDS4 CYS-183; ARG-201; GLU-228; ARG-540; ARG-936; GLU-996; VAL-1071; ALA-1104; GLU-1182; VAL-1185; GLU-1188 AND ARG-1188
    50. 50.
      "Efficient strategy for the detection of mutations in acrogeric Ehlers-Danlos syndrome type IV."
      Johnson P.H. , Richards A.J. , Lloyd J.C. , Pope F.M. , Hopkinson D.A.
      Hum. Mutat.6:336-342(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EDS4 ASP-909 AND ASP-939
    51. 51.
      "Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation."
      Mackay K. , Raghunath M. , Superti-Furga A. , Steinmann B. , Dalgleish R.
      Clin. Genet.49:286-295(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EDS4 GLU-567; CYS-762 AND ASP-1170
    52. 52.
      "Abnormal extracellular matrix in Ehlers-Danlos syndrome type IV due to the substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen."
      McGrory J. , Weksberg R. , Thorner P. , Cole W.G.
      Clin. Genet.50:442-445(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EDS4 GLU-1101
    53. 53.
      "A novel G499D substitution in the alpha 1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV."
      McGrory J. , Costa T. , Cole W.G.
      Hum. Mutat.7:59-60(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EDS4 ASP-666
    54. 54.
      "A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV."
      Anderson D.W. , Thakker-Varia S. , Tromp G. , Kuivaniemi H. , Stolle C.A.
      Hum. Mutat.9:62-63(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EDS4 SER-582
    55. 55.
      "Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis."
      Smith L.T. , Schwarze U. , Goldstein J. , Byers P.H.
      J. Invest. Dermatol.108:241-247(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EDS4 CYS-183; ARG-201; GLU-228; ARG-540 AND ARG-936
    56. 56.
      "A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV."
      Bateman J.F. , Chiodo A.A. , Weng Y.M. , Chan D. , Haan E.
      Hum. Mutat. Suppl.1:S257-S259(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EDS4 ARG-726
    57. 57.
      "COL3A1 mutation leading to acrogeria (Gottron Type)."
      Jansen T. , de Paepe A. , Luytinck N. , Plewig G.
      Br. J. Dermatol.142:178-180(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EDS-IV ARG-1173
    58. 58.
      "Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays."
      Giunta C. , Steinmann B.
      Hum. Mutat.16:176-177(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EDS4 ASP-204; ASP-210; ARG-264; ASP-327; ASP-1098 AND GLU-1173
    59. 59.
      "Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type."
      Pepin M. , Schwarze U. , Superti-Furga A. , Byers P.H.
      N. Engl. J. Med.342:673-680(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EDS4
    60. 60.
      "Ehlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis."
      Nishiyama Y. , Nejima J. , Watanabe A. , Kotani E. , Sakai N. , Hatamochi A. , Shinkai H. , Kiuchi K. , Tamura K. , Shimada T. , Takano T. , Katayama Y.
      J. Intern. Med.249:103-108(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EDS4 ASP-1044
    61. 61.
      "Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile."
      Kroes H.Y. , Pals G. , van Essen A.J.
      Clin. Genet.63:224-227(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EDS4 ARG-297
    62. 62.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
    63. 63.
      "Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism."
      Palmeri S. , Mari F. , Meloni I. , Malandrini A. , Ariani F. , Villanova M. , Pompilio A. , Schwarze U. , Byers P.H. , Renieri A.
      Clin. Genet.63:510-515(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT EDS4 VAL-1050
    64. 64.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS [LARGE SCALE ANALYSIS] SER-420 AND CYS-1434
    65. 65.
      "Natural variation in four human collagen genes across an ethnically diverse population."
      Chan T.F. , Poon A. , Basu A. , Addleman N.R. , Chen J. , Phong A. , Byers P.H. , Klein T.E. , Kwok P.Y.
      Genomics91:307-314(2008) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS THR-679; THR-698; VAL-1205 AND GLN-1353
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