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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Table 9.

DDC Pathogenic Variants Referenced in This GeneReview

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_000790​.4
NP_000781​.2
c.304G>Ap.Gly102SerLevodopa-responsive pathogenic variant [Chang et al 2004]
NM_000790​.4 c.714+4A>T--Founder variant in persons of Japanese, Taiwanese, & Chinese descent [Wassenberg et al 2017]; AF = 36% [Himmelreich et al 2022]
NM_000790​.4
NP_000781​.2
c.1040G>Ap.Arg347GlnAF = 7% [Himmelreich et al 2022]
c.1234C>Tp.Arg412TrpAF = 4% [Himmelreich et al 2022]

AF = allele frequency

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

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

From: Aromatic L-Amino Acid Decarboxylase Deficiency

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