Table 3 of
Bolz, Mol Vis 2005;
11:929-933.
Table 3. Sequence variations detected in the human PCDH21 gene
Nomenclature is based on PCDH21 coding sequence as given in GenBank accession number NM_033100.
Nucleotide sequence Protein Type of sequence variation variation change --------------------------- ------------- ------- Missense mutation c.634G>A p.A212T Missense mutation c.1594C>G p.P532A Missense mutation c.1868A>G p.N623S coding sequence, synonymous c.201C>T - coding sequence, synonymous c.453G>A - coding sequence, synonymous c.477A>G - coding sequence, synonymous c.624C>T - coding sequence, synonymous c.783G>A - coding sequence, synonymous c.1461G>A - coding sequence, synonymous c.1662A>G - intronic c.298-86G>A - intronic c.439-83A>C - intronic c.639+42C>T - intronic c.784-153C>T - intronic c.862+22G>A - intronic c.863-9C>T - intronic c.1486-146C>T - |