Table 7.

Notable ADCY5 Pathogenic Variants

Reference SequencesDNA Nucleotide
Change		Predicted
Protein Change		Comment [Reference]
NM_183357​.3
NP_899200​.1 		c.1252C>Tp.Arg418Trp 1Recurrent de novo pathogenic variants affecting the same residue [Chen et al 2014, Chen et al 2015, Chang et al 2016]
c.1252C>Gp.Arg418Gly
c.1253G>Ap.Arg418Gln
c.1762G>Ap.Asp588AsnAssoc w/autosomal recessive inheritance [Barrett et al 2017, Bohlega et al 2019]
NM_183357​.3 c.2088+1G>AApparent loss-of-function variant w/unclear disease mechanism [Carapito et al 2015]
NM_183357​.3
NP_899200​.1 		c.2176G>Ap.Ala726ThrAssoc w/milder phenotype [Vijiaratnam et al 2019]
c.3086T>Ap.Met1029Lys 2Assoc w/somatic mosaicism [Chen et al 2015]

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.

1.
2.

See Clinical Description, Neurologic Manifestations.

From: ADCY5 Dyskinesia

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