<p>(A) The PolyPhen-2 program was used to predict the possible impact of the amino acid substitution on the structure and function of βB2-crystallin. The score from PolyPhen-2 analysis is 1.00, which means that the W151C mutation is predicted to probably damage to the structure and function of βB2-crystallin. (B) The outcome from SIFT shows that the amino acid change is probably damaging to the function of protein, with the score is 0.00 and the median information content is 2.73. (C) Multiple-sequence alignment in CRYBB2 from different species reveals that codon 151, where the mutation (p. W151C) occurred, is highly conserved (highlighted in green, the mutant in red).</p
peer reviewedInterpretation of the colossal number of genetic variants identified from sequencing ap...
<p>Multiple sequence alignment demonstrating evolutionary conservation of the six biologically chara...
*<p>For conservative analysis, “+” indicates the amino acid residue is highly conserved and “−” indi...
<p>(A) The mutation was predicted to be probably damaging with a score of 1.00 by PolyPhen-2, which ...
<p>Fisher's exact test using the SPSS was used for statistical analysis of novel mutations. A <i>p</...
A. Crystal structure of arrestin-3 (Protein Data Bank entry 3P2D [33]) with selected mutations indic...
Single amino-acid substitution in a protein affects its structure and function. These changes are th...
Single amino-acid substitution in a protein affects its structure and function. These changes are th...
Normal structures are shown in red and the overlaid mutant structures are shown in blue (truncations...
<p>(A) Bar graph shows percent of non-synonymous somatic mutations and their probability to impact p...
<p>(A) The predicted secondary structure showing the reduced extended strand and random coil in the ...
The inclusion of a mutation in a pathology-based database such as the Human Gene Mutation Database (...
(a) Overview of CYP1B1 wild type protein in ribbon-presentation (b-l) In-silico protein prediction r...
Next-generation sequencing methods have not only allowed an understanding of genome sequence variati...
Thesis (Ph.D.)--University of Washington, 2016-06As more individuals have their genomes sequenced, m...
peer reviewedInterpretation of the colossal number of genetic variants identified from sequencing ap...
<p>Multiple sequence alignment demonstrating evolutionary conservation of the six biologically chara...
*<p>For conservative analysis, “+” indicates the amino acid residue is highly conserved and “−” indi...
<p>(A) The mutation was predicted to be probably damaging with a score of 1.00 by PolyPhen-2, which ...
<p>Fisher's exact test using the SPSS was used for statistical analysis of novel mutations. A <i>p</...
A. Crystal structure of arrestin-3 (Protein Data Bank entry 3P2D [33]) with selected mutations indic...
Single amino-acid substitution in a protein affects its structure and function. These changes are th...
Single amino-acid substitution in a protein affects its structure and function. These changes are th...
Normal structures are shown in red and the overlaid mutant structures are shown in blue (truncations...
<p>(A) Bar graph shows percent of non-synonymous somatic mutations and their probability to impact p...
<p>(A) The predicted secondary structure showing the reduced extended strand and random coil in the ...
The inclusion of a mutation in a pathology-based database such as the Human Gene Mutation Database (...
(a) Overview of CYP1B1 wild type protein in ribbon-presentation (b-l) In-silico protein prediction r...
Next-generation sequencing methods have not only allowed an understanding of genome sequence variati...
Thesis (Ph.D.)--University of Washington, 2016-06As more individuals have their genomes sequenced, m...
peer reviewedInterpretation of the colossal number of genetic variants identified from sequencing ap...
<p>Multiple sequence alignment demonstrating evolutionary conservation of the six biologically chara...
*<p>For conservative analysis, “+” indicates the amino acid residue is highly conserved and “−” indi...