TY - Jour A2 - PiantinoFerreira，Antonio J. Au - Shinwari，Khyber Au - Guojun，Liu Au - Deryabina，Svetlana S. Au - Bolkov，Mikhail A. Au - Tuzankina，Irina A. Au - Chereshnev，Vally A. Py- 2021 da - 2021/06/14 Ti - 预测亨妮综合征导致CCBE1基因的非纯粹单核苷酸多态性，在Silico分析SP - 6642626 VL - 2021 AB - Hennekam淋巴结血症 - 淋巴结综合征与单一相连- CCBE1（胶原和钙结合EGF结构域1）基因的核苷酸多态性。几种生物信息学方法用于找到可能影响CCBE1结构和功能的最危险的NSSNP。本研究中使用最先进的硅工具，研究了破坏CCBE1蛋白和细胞外基质重塑和迁移的最致病性非纯性单核苷酸多态性（NSSNP）。我们的结果表明，七个NSSNPS，RS115982879，RS149792489，RS374941368，RS121908254，RS121908254和RS372499913，在CCBE1基因中有所存在，其中四（G330E，C102S，C174R和G107D）是一种极具有害的两种（G330E和G107D）在Hennekam综合征的背景下没有见过。12个Missense SNP，RS199902030，RS267605221，RS37517418，RS80008675，RS116596858，RS116675104，RS116675104，RS121908252，RS147681552，RS147681552，RS139059968和RS139059968和RS148498685恢复到STOP Codons中。基于结构的同源性的方法和基于序列同源性的工具显示，8.8％的NSSNP是致病性的。SIFT，Polyphen2，M-Cap，CADD，Fathmm-MKL，Dann，Panther，突变品牌，LRT和Snap2具有识别有害NSSNP的显着分数。突出显示RS3749413668和RS200149541在预测翻译后变化中的重要性，因为它会影响可能的磷酸化位点。 Gene-gene interactions revealed CCBE1’s association with other genes, showing its role in a number of pathways and coexpressions. The top 16 deleterious nsSNPs found in this research should be investigated further in the future while researching diseases caused CCBE1 gene specifically HS. The FT web server predicted amino acid residues involved in the ligand-binding site of the CCBE1 protein, and two of the substitutions (R167W and T153N) were found to be involved. These highly deleterious nsSNPs can be used as marker pathogenic variants in the mutational diagnosis of the HS syndrome, and this research also offers potential insights that will aid in the development of precision medicines. CCBE1 proteins from Hennekam syndrome patients should be tested in animal models for this purpose. SN - 2356-6140 UR - https://doi.org/10.1155/2021/6642626 DO - 10.1155/2021/6642626 JF - The Scientific World Journal PB - Hindawi KW - ER -