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 -
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