Table 2. Sequence variants in the CACNA1F gene

Three novel mutations in the CACNA1F gene. R884X has been previously found by Bech-Hansen et al. [8] in one patient and by Strom et al. [9] in two unrelated patients. R1919H has been previously found in one patient and described as a polymorphism in 21 of 100 control alleles [17]. The nucleotide positions in the mutation column are based on the start codon of the CACNA1F gene (AJ006216).

Patient   Exon   Mutation   Protein   Reference
-------   ----   --------   -------   ---------
 2446      15    2038C>T    R680X
 2477      21    2650C>T    R884X      [8,19]
 2417      31    3761G>T    S1254I
 2490      33    3853C>A    R1285S
 2496      48    5756G>A    R1919H     [17]