Mutation

Kinetic parameters

Tree Display

AceDB Schema

XML Display

Feedback

Mutation Report for: R1530X_human-TG

R1530X_human-TG
Gene_Locus|human-TG
Mode of mutation|Natural mutant
Amino Acid change|R1511stop
Torpedo number|
Summary|
Comment|p.R1530X Arg1530Ter c.4588C>T (p.R1511X Arg1511Ter without 19-amino-acid signal peptide)Skipping of exon 22. Also found in compound heterozygous R296X/R1530X(R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis.Also found in compound heterozygote R1530X/Q1796X(R1511X/Q1777X)
Kinetic parameters|none


References:
    Title: Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene
    Targovnik HM, Souchon PF, Machiavelli GA, Salmon-Musial AS, Mauran PL, Sulmont V, Doco-Fenzy M, Rivolta CM
    Ref: Clinical Endocrinology (Oxf), 72:716, 2010 : PubMed

            

    Title: Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: haplotype analysis using intragenic thyroglobulin polymorphisms
    Caputo M, Rivolta CM, Gutnisky VJ, Gruneiro-Papendieck L, Chiesa A, Medeiros-Neto G, Gonzalez-Sarmiento R, Targovnik HM
    Ref: J Endocrinol, 195:167, 2007 : PubMed

            

    Title: Nonsense-associated alternative splicing of the human thyroglobulin gene
    Mendive FM, Rivolta CM, Gonzalez-Sarmiento R, Medeiros-Neto G, Targovnik HM
    Ref: Mol Diagn, 9:143, 2005 : PubMed

            

    Title: Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis
    Gutnisky VJ, Moya CM, Rivolta CM, Domene S, Varela V, Toniolo JV, Medeiros-Neto G, Targovnik HM
    Ref: J Clinical Endocrinology Metab, 89:646, 2004 : PubMed

            

    Title: Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism
    Targovnik HM, Frechtel GD, Mendive FM, Vono J, Cochaux P, Vassart G, Medeiros-Neto G
    Ref: Thyroid, 8:291, 1998 : PubMed

            

    Title: A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis
    Targovnik HM, Vono J, Billerbeck AE, Cerrone GE, Varela V, Mendive F, Wajchenberg BL, Medeiros-Neto G
    Ref: J Clinical Endocrinology Metab, 80:3356, 1995 : PubMed

            

    Title: A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger
    Targovnik HM, Medeiros-Neto G, Varela V, Cochaux P, Wajchenberg BL, Vassart G
    Ref: J Clinical Endocrinology Metab, 77:210, 1993 : PubMed

            

    Title: Low levels of thyroglobulin messenger ribonucleic acid in congenital goitrous hypothyroidism with defective thyroglobulin synthesis
    Targovnik H, Propato F, Varela V, Wajchenberg B, Knobel M, D'Abronzo HF, Medeiros-Neto G
    Ref: J Clinical Endocrinology Metab, 69:1137, 1989 : PubMed

            




Send your questions or comments to :
Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
For technical information about these pages see:
ESTHER Home Page and ACEDB Home Page
AcePerl Lincoln Stein Home Page
webmaster

Acknowledgements and disclaimer