<i>In-silico</i> analysis of nonsynonymous genomic variants within <i>CCM2</i> gene reaffirm the existence of dual cores within typical PTB domain.

In-silico analysis of nonsynonymous genomic variants within CCM2 gene reaffirm the existence of dual cores within typical PTB domain.

Padarti, Akhil; Belkin, Ofek; Abou-Fadel, Johnathan; Zhang, Jun.

Afiliação

Padarti A; Departments of Molecular & Translational Medicine (MTM), Texas Tech University Health Science Center El Paso (TTUHSCEP), El Paso, TX, 79905, USA.
Belkin O; Department of Neurology, University of South Alabama School of Medicine, 5795 USA N Dr., Mobile, AL, 36608, USA.
Abou-Fadel J; Departments of Molecular & Translational Medicine (MTM), Texas Tech University Health Science Center El Paso (TTUHSCEP), El Paso, TX, 79905, USA.
Zhang J; Departments of Molecular & Translational Medicine (MTM), Texas Tech University Health Science Center El Paso (TTUHSCEP), El Paso, TX, 79905, USA.

Biochem Biophys Rep ; 29: 101218, 2022 Mar.

Article em En | MEDLINE | ID: mdl-35128084

Palavras-chave

Amino acid substitution; CCMs, cerebral cavernous malformations; CSC, CCM signaling complex; CUPSAT, Cologne University Protein Stability Analysis Tool; HOPE, Have (y)Our Protein Explained; I-TASSER, the iterative threading assembly refinement; INDELs, insertions/deletions; In-silico analysis; MAF, minor allele frequency; Nonsynonymous single nucleotide polymorphisms (nsSNPs); PANTHER, Protein ANalysis THrough Evolutionary Relationship; PDB, protein data bank; PH, pleckstrin homology; POLYPHEN-2, Polymorphism Phenotyping; PROVEAN, Protein Variation Effect Analyzer; PTB, phosphotyrosine binding; PTCs, premature termination codons; SIFT, Sorting Intolerant From Tolerant; Single nucleotide polymorphisms (SNPs); Superimposition of protein structures; Tertiary structure; nsSNP, nonsynonymous single nucleotide polymorphism

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article