Sandbox Reserved 1645: Difference between revisions
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Other diseases can occur by the substitution of other cysteines of the FBN1 transcript such as C1, C2, C3, or C4. But the consequences of these mutations are much more severe. It shows the importance of cysteine localization for the protein structure. Also, a mutation of the [https://en.wikipedia.org/wiki/TGF_beta_receptor_2 TGFBR2] gene coding for the TGF-bp has been found and can cause the "Type 2 Marfan syndrome". However, not much has been discovered on the subject yet. <ref> | Other diseases can occur by the substitution of other cysteines of the FBN1 transcript such as C1, C2, C3, or C4. But the consequences of these mutations are much more severe. It shows the importance of cysteine localization for the protein structure. Also, a mutation of the [https://en.wikipedia.org/wiki/TGF_beta_receptor_2 TGFBR2] gene coding for the TGF-bp has been found and can cause the "Type 2 Marfan syndrome". However, not much has been discovered on the subject yet. <ref>Am J Hum Genet.(1999), Cysteine Substitutions in Epidermal Growth Factor–Like Domains of Fibrillin-1: Distinct Effects on Biochemical and Clinical Phenotypes, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1288233/</ref> | ||
