MICROSOFT EXCEL FORMAT TABLE LEGEND

Each line represents a single FBN1 mutation. The columns contain the following information and abbreviations:

Column A: "File". File number.

Column B: "AA Position" Codon number at which the mutation is located, numbered as above. If the mutation spans more than one codon, e.g. there is a deletion of several bases, only the first (5') codon is entered.

Column C: "Exon number" Exon number at which the mutation is located. Exons are numbered with respect to the translational initiation site given by Pereira et al. (Pereira, L. et al. 1993, Hum. Mol. Genet., 2, 961-968).

Column D: "WT codon" Normal base sequence of the codon in which the mutation occured.

Column E: "Mutant codon" Mutated base sequence of the codon in which the mutation occured. If the mutation is a base pair deletion or insertion this is indicated by "del" or "ins" followed by the number of bases deleted or inserted and the position of this deletion or insertion in the codon (a, b, or c). The nucleotide position is the first that is deleted or the one preceding the insertion. For example, "del66b" is a deletion of 66 bases including the second base of the codon; "ins4b" is an insertion of 4 bases occuring between the second and the third base of the codon.

Column F: "Mutational event" 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. "Stop at 2115".

Column G: "CpG" Mutation involving a CpG dinucleotide

Column H: "Transition-Transversion" Ts: Transition; Tv: Transversion; Fr: Frameshift; InF: Inframe.

Column I: "Structure" Protein domain in which the mutation occurs. Each motif group is numbered separately and according to their position with respect to the amino terminal end of the protein, e.g. "cb EGF-like" (for calcium-binding EGF-like motifs) #1 to 43, "EGF-like" (for non calcium-binding EGF-like motifs) #1 to 4, "8-cys" (for "8-cysteine" motifs) # 1 to 7, "Hybrid motifs" # 1 to 2 (35).

Column J: "Mutation name" Nucleotide mutation name according to den Dunnen and Antonarakis (Hum Genet. 2001;109(1):121-4 ).

Column K and L: "WT AA" "Mutant AA" Each column contains name of amino acid (AA) and mutant AA.

Column M: "Comments"

Column N: "Ref#" Reference number indicating the publication in which the mutation is described. Full citations (authors, year, tittle, volume, pages) are provided with the database. If the same mutation has been reported for the same patient in different papers only one entry is made. If the same mutation has been reported for unrelated patients, a separate entry is made for each patient.