Concerns base substitutions. It gives the base change, by convention, read from the coding strand. If the mutation predicts a premature protein-termination, the novel stop codon position is given, e.g ,
Column H: Mutation name according to ,
Mutant amino acid. Deletion and insertion mutations which result in a frameshift are designated by 'Frameshift'. Nonsense mutations are designated by 'Stop ,
Diagnostic manifestations in the systems listed by Beighton et al. (45) and De Paepe et al. (46) In all these columns ,
Reference number indicating the publication in which the mutation is described. NP indicates unpublished mutations contributed by NP1 (M. Boxer and C. Black) and NP2 (D. Milewicz). P indicates references that are in press ,
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Fibrillin Binds Calcium and Is Coded by cDNAs That Reveal a Multidomain Structure and Alternatively Spliced Exons at the 5??? End, Genomics, vol.17, issue.2, pp.476-484, 1993. ,
DOI : 10.1006/geno.1993.1350
Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome, Human Molecular Genetics, vol.2, issue.7, pp.961-968, 1993. ,
DOI : 10.1093/hmg/2.7.961
Marfan syndrome caused by a recurrent de novo missense mutation
in the fibrillin gene, Nature, vol.352, issue.6333, pp.337-339, 1991. ,
DOI : 10.1038/352337a0
Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains, Human Mutation, vol.43, issue.5, pp.366-374, 1992. ,
DOI : 10.1177/33.4.3980980
Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene., Journal of Clinical Investigation, vol.89, issue.5, pp.1674-1680, 1992. ,
DOI : 10.1172/JCI115766
Four Novel FBN1 Mutations: Significance for Mutant Transcript Level and EGF-like Domain Calcium Binding in the Pathogenesis of Marfan Syndrome, Genomics, vol.17, issue.2, pp.468-475, 1993. ,
DOI : 10.1006/geno.1993.1349
The skipping of constitutive exons in vivo induced by nonsense mutations, Science, vol.267, issue.4, pp.680-683, 1993. ,
DOI : 10.1128/MCB.9.7.2868
Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15???21 in Marfan syndrome patients, Human Molecular Genetics, vol.3, issue.2, pp.373-375, 1994. ,
DOI : 10.1093/hmg/3.2.373
A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module, Human Molecular Genetics, vol.2, issue.4, pp.475-477, 1993. ,
DOI : 10.1093/hmg/2.4.475
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome, Nature Genetics, vol.26, issue.1, pp.64-69, 1994. ,
DOI : 10.1016/0092-8674(87)90123-1
Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred, Human Molecular Genetics, vol.3, issue.6, pp.1013-1014, 1994. ,
DOI : 10.1093/hmg/3.6.1013
Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains, Human Molecular Genetics, vol.2, issue.11, pp.1813-1821, 1993. ,
DOI : 10.1093/hmg/2.11.1813
A Novel Mutation of the Fibrillin Gene Causing Ectopia Lentis, Genomics, vol.19, issue.3, pp.573-576, 1994. ,
DOI : 10.1006/geno.1994.1110
A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome., Journal of Clinical Investigation, vol.95, issue.5, pp.2373-2378, 1995. ,
DOI : 10.1172/JCI117930
Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome, Human Molecular Genetics, vol.4, issue.4, pp.607-613, 1995. ,
DOI : 10.1093/hmg/4.4.607
An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome., Journal of Clinical Investigation, vol.94, issue.2, pp.709-713, 1994. ,
DOI : 10.1172/JCI117389
Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques, Human Mutation, vol.29, issue.2, pp.159-162, 1994. ,
DOI : 10.1002/humu.1380030212
A new missense mutation of fibrillin in a patient with Marfan syndrome., Journal of Medical Genetics, vol.31, issue.4, pp.338-339, 1994. ,
DOI : 10.1136/jmg.31.4.338
Biochemical genetics: examples of life after cloning, Current Opinion in Genetics & Development, vol.3, issue.3, pp.475-483, 1993. ,
DOI : 10.1016/0959-437X(93)90123-7
A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly, Molecular and Cellular Probes, vol.8, issue.4, pp.325-327, 1994. ,
DOI : 10.1006/mcpr.1994.1045
Scientific workshop of the Marfan syndrome, Am. J. Hum. Genet, vol.53, 1993. ,
Delineation of the Marfan phenotype associated with mutations in exons 23???32 of theFBN1 gene, American Journal of Medical Genetics, vol.346, issue.3, pp.233-242, 1996. ,
DOI : 10.1038/346281a0
Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome, Nature Genetics, vol.89, issue.2, pp.209-211, 1996. ,
DOI : 10.1038/nm0895-798
Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome., Journal of Medical Genetics, vol.33, issue.8, pp.665-671, 1996. ,
DOI : 10.1136/jmg.33.8.665
Software and database for the analysis of mutations in the human FBN1 gene, Nucleic Acids Research, vol.24, issue.1, pp.137-140, 1996. ,
DOI : 10.1093/nar/24.1.137
A suggested nomenclature for designating mutations, Human Mutation, vol.1, issue.4, pp.245-248, 1993. ,
DOI : 10.1002/humu.1380020402
International nosology of heritable disorders of connective tissue, Berlin, 1986, American Journal of Medical Genetics, vol.91, issue.3, pp.581-594, 1988. ,
DOI : 10.7326/0003-4819-93-6-813
Revised diagnostic criteria for the Marfan syndrome, American Journal of Medical Genetics, vol.104, issue.4, pp.417-426, 1996. ,
DOI : 10.2214/ajr.97.1.118