*<p>Het, heterozygote; Hom, homozygote.</p><p>PSSM or SIFT scores of mutation lines with star (*) are predicted to be damaging to protein function. Mutation with PSSM score larger than 10 indicates that the mutation is more likely to have a damaging effect on the protein function. Mutation with SIFT score less than 0.05 is predicted to be deleterious.</p
<p>Sorting intolerant from tolerant (SIFT) uses sequence homology to predict effects on protein func...
<p>(A) The PolyPhen-2 program was used to predict the possible impact of the amino acid substitution...
Single nucleotide polymorphism (SNP) studies and random mutagenesis projects identify amino acid sub...
<p>Fisher's exact test using the SPSS was used for statistical analysis of novel mutations. A <i>p</...
<p><b>Polyphen-2</b> - score 0 to1 shows low to high confidence for probability of protein damaging....
<p>(A) The mutation was predicted to be probably damaging with a score of 1.00 by PolyPhen-2, which ...
<p>(A) Bar graph shows percent of non-synonymous somatic mutations and their probability to impact p...
<p>(a) Western blotting with anti-GFP antibody confirming the protein expression levels of wild-type...
Pathogenic deviations (PDs) in humans are disease-causing missense mutations. However, in some cases...
<p>Cumulative distributions of mutant allele frequencies (heteroplasmy levels) for different mutatio...
Single residue mutations in proteins are known to affect protein stability and function. As a conseq...
Next-generation sequencing methods have not only allowed an understanding of genome sequence variati...
Systematic mappings of the effects of protein mutations are becoming increasingly popular. Unexpecte...
Mutations in protein coding regions underlie almost all Mendelian disorders, drive tumorigenesis, an...
<p><sup>a</sup>predicted protein thermal stability change (∆∆G in Kcal/mol) of mutation from CUPSAT ...
<p>Sorting intolerant from tolerant (SIFT) uses sequence homology to predict effects on protein func...
<p>(A) The PolyPhen-2 program was used to predict the possible impact of the amino acid substitution...
Single nucleotide polymorphism (SNP) studies and random mutagenesis projects identify amino acid sub...
<p>Fisher's exact test using the SPSS was used for statistical analysis of novel mutations. A <i>p</...
<p><b>Polyphen-2</b> - score 0 to1 shows low to high confidence for probability of protein damaging....
<p>(A) The mutation was predicted to be probably damaging with a score of 1.00 by PolyPhen-2, which ...
<p>(A) Bar graph shows percent of non-synonymous somatic mutations and their probability to impact p...
<p>(a) Western blotting with anti-GFP antibody confirming the protein expression levels of wild-type...
Pathogenic deviations (PDs) in humans are disease-causing missense mutations. However, in some cases...
<p>Cumulative distributions of mutant allele frequencies (heteroplasmy levels) for different mutatio...
Single residue mutations in proteins are known to affect protein stability and function. As a conseq...
Next-generation sequencing methods have not only allowed an understanding of genome sequence variati...
Systematic mappings of the effects of protein mutations are becoming increasingly popular. Unexpecte...
Mutations in protein coding regions underlie almost all Mendelian disorders, drive tumorigenesis, an...
<p><sup>a</sup>predicted protein thermal stability change (∆∆G in Kcal/mol) of mutation from CUPSAT ...
<p>Sorting intolerant from tolerant (SIFT) uses sequence homology to predict effects on protein func...
<p>(A) The PolyPhen-2 program was used to predict the possible impact of the amino acid substitution...
Single nucleotide polymorphism (SNP) studies and random mutagenesis projects identify amino acid sub...