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. Author manuscript; available in PMC: 2009 Jul 13.
Published in final edited form as: Neurobiol Dis. 2007 Aug 24;29(1):59–70. doi: 10.1016/j.nbd.2007.08.006

Table 1.

Variants Identified in the Human HCN1 Gene

Location Nucleotide Amino acid dbSNP Frequency of minor allele in:
Patients n=82 Controls n=50
Nonsynonymous
Exon 1 c.124C>T p.P42S ss73757979 0.21 0.13
c.187_195del p.G63_G65del ss73757931 2.4 ND
c.193_201del p.G65_G67del ss73757936 2.4 ND
c.202_210del p.G68_G70del ss73757939 1.2 ND
c.202_207del p.G68_G69del ss73757941 1.2 ND
Exon 8 c.2641G>A p.A881T ss73757981 0.21 0.03
Synonymous and intronic variants
Exon 6 c.1521C>T p.A507A ss73757962 0.62 ND
Intron 7 c.1783+7dupT NA ss73757966 1.22 0.0

Nucleotide positions based on GenBank Accession Number AF488549. The translational start site of HCN1 is considered to be nucleotide position 1.

1

n=260;

2

n=84;

3

n=510; Del, deletion; Ins, insertion; NA, not applicable; ND, not determined.