Single amino acid-substituting variations and distribution of concurrent variations in dbSNP/HapMap and HGMD by type of variation.

ansSNP or missense mutation: variation expected to replace one amino acid (AA1) with a different amino acid (AA2)btrSNP or nonsense mutation: variation expected to replace one amino acid (AA1) with a termination codon (TR)csnSNP: variation expected not to change the original amino acid (AA1)dVariation groups represented in Figure 1 diagrameVariations concurrent in dbSNP and HGMDfVariations concurrent in dbSNP, HapMap, and HGMD错义SNP（ansSNP，missense mutation）：指预期将某一氨基酸（AA1）替换为另一种不同氨基酸（AA2）的遗传变异；无义SNP（btrSNP，nonsense mutation）：指预期将某一氨基酸（AA1）替换为终止密码子（TR）的遗传变异；同义SNP（csnSNP）：指预期不会改变原有氨基酸（AA1）的遗传变异；图1示意图中展示的变异组别；同时存在于dbSNP与人类基因突变数据库（HGMD，Human Gene Mutation Database）中的遗传变异；同时存在于dbSNP、HapMap与人类基因突变数据库（HGMD）中的遗传变异