Structural Characteristics in the γ Chain Variants Associated with Fibrinogen Storage Disease Suggest the Underlying Pathogenic Mechanism
Abstract
:1. Introduction
2. Case Presentation
2.1. Clinical Data
2.2. Morphological Studies
2.3. Molecular Analysis
2.4. Protein Structural Analysis
3. Discussion
4. Conclusions
Author Contributions
Funding
Acknowledgments
Conflicts of Interest
References
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Variant | ΔΔG (kcal/mol) | |
---|---|---|
γ Chain C* | γ Chain F* | |
Thr371Ile | 0.7 (0.1) | 0.8 (0.3) |
Gly284Arg | 10.5 (0.4) | 14.4 (0.9) |
Arg375Trp | 1.9 (1.2) | 2.1 (1.0) |
Thr314Pro | 1.0 (0.3) | 2.5 (0.0) |
Asp316Asn | −0.3 (0.1) | 0.1 (0.1) |
Gly366Ser | 6.3 (0.8) | 4.4 (0.2) |
His340Asp | 2.8 (0.3) | 2.2 (0.0) |
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Burcu, G.; Bellacchio, E.; Sag, E.; Cebi, A.H.; Saygin, I.; Bahadir, A.; Yilmaz, G.; Corbeddu, M.; Cakir, M.; Callea, F. Structural Characteristics in the γ Chain Variants Associated with Fibrinogen Storage Disease Suggest the Underlying Pathogenic Mechanism. Int. J. Mol. Sci. 2020, 21, 5139. https://doi.org/10.3390/ijms21145139
Burcu G, Bellacchio E, Sag E, Cebi AH, Saygin I, Bahadir A, Yilmaz G, Corbeddu M, Cakir M, Callea F. Structural Characteristics in the γ Chain Variants Associated with Fibrinogen Storage Disease Suggest the Underlying Pathogenic Mechanism. International Journal of Molecular Sciences. 2020; 21(14):5139. https://doi.org/10.3390/ijms21145139
Chicago/Turabian StyleBurcu, Guven, Emanuele Bellacchio, Elif Sag, Alper Han Cebi, Ismail Saygin, Aysenur Bahadir, Guldal Yilmaz, Marialuisa Corbeddu, Murat Cakir, and Francesco Callea. 2020. "Structural Characteristics in the γ Chain Variants Associated with Fibrinogen Storage Disease Suggest the Underlying Pathogenic Mechanism" International Journal of Molecular Sciences 21, no. 14: 5139. https://doi.org/10.3390/ijms21145139