… -scale analysis on amino acid mutation patterns of genetic diseases and Hominidae evolution,
we … to understanding the molecular links between human genetic diseases and evolution. …

… novo mutations on human genetic disease, we summarize our current knowledge of the
germline mutation rates in humans (… was a substitution of lysine for glutamine at amino acid 17. …

… This altered series of 87 amino acids in mutated Cx46 has no significant homology with
any known protein and causes loss of phosphorylation sites at the carboxyl end of Cx46. …

… the potential for an observed amino acid change to produce disease in humans (6–10), we
… rat, will likely provide this evolutionary context for a wide variety of human genetic disorders. …

… It is clear that mutations affecting splicing pattern may be the cause of genetic disorders,
although … amino acid substitutions. However, the analysis of RNA/cDNA clearly shows that such …

… Next, we cross-referenced amino acid positions of the disease-associated missense
mutations and nsSNPs to the functional features and 3D structures of the protein data in …

… of point mutations in human genes causing genetic disease. This … of the point mutations
causing human genetic disease. Sev… net effect of a specific amino acid exchange. Designed as a …

… within the coding region that do not alter the encoded amino acid are not recorded in …
mutation data from a total of 2,385 human genes for which either missense or nonsense mutations …

A number of genetic disorders are caused by mutations in the genes encoding … these
genetic disorders reflect disturbances in crucial biological functions of GAGs in human…

… to a codon for an amino acid with a bulkier side chain. … mutations in three other collagen
genes (COL2A1, COL3A1, and COL4A5) have been found in probands with genetic diseases …