Table 2.

Selected CACNA1A Pathologic Allelic Variants

DNA Nucleotide ChangeProtein Amino Acid ChangeReference Sequences
c.3841C>T 1p.Arg1281*NM_023035​.2
NP_075461​.2
c.4217T>G 1p.Phe1406Cys
c.4645C>T 1p.Arg1549*

Note on variant classification: Variants listed in the table have been provided by the author(s). GeneReviews staff have not independently verified the classification of variants.

Note on nomenclature: GeneReviews follows the standard naming conventions of the Human Genome Variation Society (www​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1. Associated with fluctuating weakness manifesting as a myasthenic syndrome in individuals with EA2 [Jen et al 2001]. See Genotype-Phenotype Correlations.

From: Episodic Ataxia Type 2

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