TABLE 3. PublishedMissenseMutations in FBN1 Exons1-10n
Exon Nucleotide change Amino acid Protein Phenotype Inheritance Reference
2 184C>T R62C 4cys EL S Katzke et al. [2002]
2 w R114C 4cys MFS S KŪrkkŪ et al. [2002]
3 w C89F EGF#1 MFS S Loeys et al. [2001]
3 331T>C C111R EGF#1 SkO F Hayward et al. [1997]
3 344C>G S115C EGF#1 SkO S Katzke et al. [2002]
4 364C>T R122C EGF#2 SkO, late onset cv. F St hl-Hallengren et al. [1994]
4 386G>A C129Y EGF#2 MFS S Nijbroek et al. [1995]
5 497G>T C166F EGF#2 MFS S Nijbroek et al. [1995]
6 649T>G W217G Fib MFS F Karttunen et al. [1994]
6 w R240C Fib MFS S Loeys et al. [2001]
6 718C>T R240C Fib EL F KŪrkkŪ et al. [2002]