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      -

Bolz, Mol Vis 2005; 11:929-933 <http://www.molvis.org/molvis/v11/a111/>
©2005 Molecular Vision <http://www.molvis.org/molvis/>
ISSN 1090-0535