The amino-acid mutational spectrum of human genetic disease.

Vitkup D, Sander C, Church GM.

Genome Biol. 2003;4(11):R72. Epub 2003 Oct 30.

PMID: 14611658 [PubMed - indexed for MEDLINE]

Related Articles Free article in PMC

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions.

Cooper DN, Krawczak M.

Hum Genet. 1990 Jun;85(1):55-74. Review.

PMID: 2192981 [PubMed - indexed for MEDLINE]

Related Articles

Evolutionary anatomies of positions and types of disease-associated and neutral amino acid mutations in the human genome.

Subramanian S, Kumar S.

BMC Genomics. 2006 Dec 5;7:306.

PMID: 17144929 [PubMed - indexed for MEDLINE]

Related Articles Free article in PMC

Selective pressures at a codon-level predict deleterious mutations in human disease genes.

Arbiza L, Duchi S, Montaner D, Burguet J, Pantoja-Uceda D, Pineda-Lucena A, Dopazo J, Dopazo H.

J Mol Biol. 2006 May 19;358(5):1390-404. Epub 2006 Mar 15.

PMID: 16584746 [PubMed - indexed for MEDLINE]

Related Articles

Understanding human disease mutations through the use of interspecific genetic variation.

Miller MP, Kumar S.

Hum Mol Genet. 2001 Oct 1;10(21):2319-28.

PMID: 11689479 [PubMed - indexed for MEDLINE]

Related Articles

Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information.

Capriotti E, Calabrese R, Casadio R.

Bioinformatics. 2006 Nov 15;22(22):2729-34. Epub 2006 Aug 7.

PMID: 16895930 [PubMed - indexed for MEDLINE]

Related Articles

How similar are amino acid mutations in human genetic diseases and evolution.

Wu H, Ma BG, Zhao JT, Zhang HY.

Biochem Biophys Res Commun. 2007 Oct 19;362(2):233-7. Epub 2007 Aug 2. Review.

PMID: 17681277 [PubMed - indexed for MEDLINE]

Related Articles

Joint annotation of coding and non-coding single nucleotide polymorphisms and mutations in the SNPeffect and PupaSuite databases.

Reumers J, Conde L, Medina I, Maurer-Stroh S, Van Durme J, Dopazo J, Rousseau F, Schymkowitz J.

Nucleic Acids Res. 2008 Jan;36(Database issue):D825-9. Epub 2007 Dec 17.

PMID: 18086700 [PubMed - indexed for MEDLINE]

Related Articles Free article in PMC

The response of amino acid frequencies to directional mutation pressure in mitochondrial genome sequences is related to the physical properties of the amino acids and to the structure of the genetic code.

Urbina D, Tang B, Higgs PG.

J Mol Evol. 2006 Mar;62(3):340-61. Epub 2006 Feb 13.

PMID: 16477524 [PubMed - indexed for MEDLINE]

Related Articles

Phylogenetic network and physicochemical properties of nonsynonymous mutations in the protein-coding genes of human mitochondrial DNA.

Moilanen JS, Majamaa K.

Mol Biol Evol. 2003 Aug;20(8):1195-210. Epub 2003 May 30.

PMID: 12777521 [PubMed - indexed for MEDLINE]

Related Articles

The spectrum of human rhodopsin disease mutations through the lens of interspecific variation.

Briscoe AD, Gaur C, Kumar S.

Gene. 2004 May 12;332:107-18.

PMID: 15145060 [PubMed - indexed for MEDLINE]

Related Articles

Quantifying the intragenic distribution of human disease mutations.

Miller MP, Parker JD, Rissing SW, Kumar S.

Ann Hum Genet. 2003 Nov;67(Pt 6):567-79.

PMID: 14641244 [PubMed - indexed for MEDLINE]

Related Articles

The distribution of fitness effects of new deleterious amino acid mutations in humans.

Eyre-Walker A, Woolfit M, Phelps T.

Genetics. 2006 Jun;173(2):891-900. Epub 2006 Mar 17.

PMID: 16547091 [PubMed - indexed for MEDLINE]

Related Articles Free article in PMC

Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: evolutionary evidence for differences in molecular effects.

Thomas PD, Kejariwal A.

Proc Natl Acad Sci U S A. 2004 Oct 26;101(43):15398-403. Epub 2004 Oct 18.

PMID: 15492219 [PubMed - indexed for MEDLINE]

Related Articles Free article in PMC

Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomes.

Huang H, Winter EE, Wang H, Weinstock KG, Xing H, Goodstadt L, Stenson PD, Cooper DN, Smith D, Albà MM, Ponting CP, Fechtel K.

Genome Biol. 2004;5(7):R47. Epub 2004 Jun 28.

PMID: 15239832 [PubMed - indexed for MEDLINE]

Related Articles Free article in PMC

Spectrum of disease-causing mutations in protein secondary structures.

Khan S, Vihinen M.

BMC Struct Biol. 2007 Aug 29;7:56.

PMID: 17727703 [PubMed - indexed for MEDLINE]

Related Articles Free article in PMC

Untangling the effects of codon mutation and amino acid exchangeability.

Yampolsky LY, Stoltzfus A.

Pac Symp Biocomput. 2005:433-44.

PMID: 15759648 [PubMed - indexed for MEDLINE]

Related Articles

Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases.

Kondrashov AS.

Hum Mutat. 2003 Jan;21(1):12-27.

PMID: 12497628 [PubMed - indexed for MEDLINE]

Related Articles

Positive and negative selection on the human genome.

Fay JC, Wyckoff GJ, Wu CI.

Genetics. 2001 Jul;158(3):1227-34.

PMID: 11454770 [PubMed - indexed for MEDLINE]

Related Articles Free article in PMC

Amino acid substitutions in the human genome: evolutionary implications of single nucleotide polymorphisms.

Majewski J, Ott J.

Gene. 2003 Feb 27;305(2):167-73.

PMID: 12609737 [PubMed - indexed for MEDLINE]

Related Articles