†<p>Numbering was based on RefSeqGene mapping, NCBI database.</p>‡<p>The polymorphism is termed missense if the nucleotide change alters the amino acid sequence, termed synonymous otherwise.</p
<p>SIFT, Polyphen-2, PhyloP, LRT, Mutation Taster, and GERP++ are functional prediction scores in wh...
Differences between genomes can be due to single nucleotide variants (SNPs), translocations, inversi...
a<p>First letter indicates common bp at this site, followed by position of SNP in sequence on GenBan...
A number of previous studies suggested the presence of deleterious amino acid altering nonsynonymous...
The human DNA is exposed to a number of changes, these changes are frequently carried out in one or ...
<p>Positions of the nucleotide (nt) mutation and the correlating amino acid (aa) are presented based...
<p>The variations that appear in greater proportion are missense, followed by those located in the i...
Definitions of polymorphism in a gene include occurrence of a rarer allele of at least 1% frequency;...
<p>Missense mutations and the resultant phenotypes observed in the families described in the present...
Polymorphism or variation in DNA sequence can affect individual phenotypes such as color of skin or ...
It is amazing to know that around 99.9% of the individuals genome among persons is alike, and only 0...
<p>Mutations (including missense point mutations/deletion/insertion) frequencies in 45 genes (737 lo...
<p>Allele frequencies of the studied SNPs in our population and in the NCBI database.</p
<p>Nucleotide polymorphisms shared by all CDC Philadelphia strains relative to the NCBI Philadelphia...
<p><b>Non-synonymous substitutions.</b> Table of <i>Funci{SNP}</i>-identified single nucleotide miss...
<p>SIFT, Polyphen-2, PhyloP, LRT, Mutation Taster, and GERP++ are functional prediction scores in wh...
Differences between genomes can be due to single nucleotide variants (SNPs), translocations, inversi...
a<p>First letter indicates common bp at this site, followed by position of SNP in sequence on GenBan...
A number of previous studies suggested the presence of deleterious amino acid altering nonsynonymous...
The human DNA is exposed to a number of changes, these changes are frequently carried out in one or ...
<p>Positions of the nucleotide (nt) mutation and the correlating amino acid (aa) are presented based...
<p>The variations that appear in greater proportion are missense, followed by those located in the i...
Definitions of polymorphism in a gene include occurrence of a rarer allele of at least 1% frequency;...
<p>Missense mutations and the resultant phenotypes observed in the families described in the present...
Polymorphism or variation in DNA sequence can affect individual phenotypes such as color of skin or ...
It is amazing to know that around 99.9% of the individuals genome among persons is alike, and only 0...
<p>Mutations (including missense point mutations/deletion/insertion) frequencies in 45 genes (737 lo...
<p>Allele frequencies of the studied SNPs in our population and in the NCBI database.</p
<p>Nucleotide polymorphisms shared by all CDC Philadelphia strains relative to the NCBI Philadelphia...
<p><b>Non-synonymous substitutions.</b> Table of <i>Funci{SNP}</i>-identified single nucleotide miss...
<p>SIFT, Polyphen-2, PhyloP, LRT, Mutation Taster, and GERP++ are functional prediction scores in wh...
Differences between genomes can be due to single nucleotide variants (SNPs), translocations, inversi...
a<p>First letter indicates common bp at this site, followed by position of SNP in sequence on GenBan...