Allelic variants list

Table 8.4 lists some of the allelic variants that are found among human CYP genes and includes the nomenclature and the actual nucleotide amino acid substitutions, the resultant abnormal phenotype, and an example of the clinical consequence. 

Figure 7.19. An example of a list of allelic variants that can be obtained through OMIM. The figure shows the list of allelic variants for McKusick-Kaufman syndrome.

Grant et al. (50) described seven nucleotide changes in the NAT2 gene which gave rise to 15 variant alleles of these, four resulted in rapid and nine in slow acetylator phenotypes, the remaining two are yet undetermined. In vitro tests indicated that most slow acetylations were due to instability of the enzyme, only one case showed decreased Fmax. They listed the frequency of three selected slow acetylator alleles in 16 populations with together over 4000 subjects. 

List of Abbreviations CD/MRV, Common Disease/Multiple Rare Variants DAAO, D-amino acid oxidase DAOA, D-aminoacid oxidase activator EST, expression sequence tag GEO, Gene Expression Omnibus MAF, minor allele frequency NIMH, National Institute of Mental Health NMDA, N-methyl D-aspartate RT-PCR, reverse transcription-PCR... 

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