Table 2 of Sengupta, Mol Vis 2007; 13:1406-1411.


Table 2. Nucleotide variants of SLC45A2 in Indian oculocutaneous albinism patients representing different ethnic groups of India

In five of the nineteen pedigrees lacking the TYR mutation, we identified five nonsynonymous changes in SLC45A2 that were absent in 100 alleles of ethnically matched controls and could represent potential mutations in the gene. The allelic and genotype frequencies of the coding SNPs (furnished in this table) in Indian and the HAPMAP populations have been illustrated in Figure 4. The "cross" denotes that the mutation was identified in heterozygous conditions in one pedigree only. The "double cross" indicates that the mutation is prevalent in German and Korean populations, identified in homozygous conditions within one pedigree and in compound heterozygous state with Met42Ile in another pedigree. The asterisk and "NA" means that it was not applicable and the hashmark means that the ethnic group and geographical location are mentioned for mutations only.

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