<p>Ref.: Reference allele</p><p>Alt.: Alternative allele</p><p>Freq.: Minor allele frequency observed in our data</p><p>a. a. change: amino acid change</p><p>Description of variants predicted as deleterious by SIFT and as probably damaging by Polyphen.</p
Genes and proteins are known to have differences in their sensitivity to alterations. Despite numero...
<p>Mutated amino acids are shown in rows; mutant amino acids are shown in columns associated with po...
A major interest in human genetics is to determine whether a nonsynonymous single-base nucleotide po...
Single nucleotide polymorphism (SNP) studies and random mutagenesis projects identify amino acid sub...
<p>Predicted number of potentially damaging and deleterious variants as predicted by computational t...
<p>SIFT, Polyphen-2, PhyloP, LRT, Mutation Taster, and GERP++ are functional prediction scores in wh...
Single nucleotide polymorphisms (SNPs) constitute the bulk of human genetic variation, occurring wit...
<p>For each gene, the number of variants from sequencing that are nonsynonymous, and then deemed del...
<p><sup>1</sup>silent mutation</p><p>The SNP numbers (#), positions in the reference and the respect...
A number of previous studies suggested the presence of deleterious amino acid altering nonsynonymous...
1<p>SIFT score ranges from 0 to 1. The amino acid substitution is predicted “damaging (D)” if the sc...
<p>*deleterious mutations were defined as “damaging” in SIFT and/or “possibly damaging” or “probably...
<p>Fisher's exact test using the SPSS was used for statistical analysis of novel mutations. A <i>p</...
<p>Variants in the chromosome 12 SGS predicted damaging/deleterious by MutationTaster/Polyphen2 and ...
<p>Functional impact of variants was predicted by a consensus of Polyphen2 and SIFT. Rare variants (...
Genes and proteins are known to have differences in their sensitivity to alterations. Despite numero...
<p>Mutated amino acids are shown in rows; mutant amino acids are shown in columns associated with po...
A major interest in human genetics is to determine whether a nonsynonymous single-base nucleotide po...
Single nucleotide polymorphism (SNP) studies and random mutagenesis projects identify amino acid sub...
<p>Predicted number of potentially damaging and deleterious variants as predicted by computational t...
<p>SIFT, Polyphen-2, PhyloP, LRT, Mutation Taster, and GERP++ are functional prediction scores in wh...
Single nucleotide polymorphisms (SNPs) constitute the bulk of human genetic variation, occurring wit...
<p>For each gene, the number of variants from sequencing that are nonsynonymous, and then deemed del...
<p><sup>1</sup>silent mutation</p><p>The SNP numbers (#), positions in the reference and the respect...
A number of previous studies suggested the presence of deleterious amino acid altering nonsynonymous...
1<p>SIFT score ranges from 0 to 1. The amino acid substitution is predicted “damaging (D)” if the sc...
<p>*deleterious mutations were defined as “damaging” in SIFT and/or “possibly damaging” or “probably...
<p>Fisher's exact test using the SPSS was used for statistical analysis of novel mutations. A <i>p</...
<p>Variants in the chromosome 12 SGS predicted damaging/deleterious by MutationTaster/Polyphen2 and ...
<p>Functional impact of variants was predicted by a consensus of Polyphen2 and SIFT. Rare variants (...
Genes and proteins are known to have differences in their sensitivity to alterations. Despite numero...
<p>Mutated amino acids are shown in rows; mutant amino acids are shown in columns associated with po...
A major interest in human genetics is to determine whether a nonsynonymous single-base nucleotide po...