Table 5. [Notable DBH Pathogenic Variants]. - GeneReviews®

Reference Sequences	DNA Nucleotide Change	Predicted Protein Change	Comment [Reference]
NM_000787 NP_000778	c.-979T>C		Variant that contributes up to 52% of normal variation in DBH activity [Zabetian et al 2001]
c.339+2T>C		Common pathogenic variant that causes abnormal splicing [Kim et al 2002, Deinum et al 2004, Kim et al 2011, Phillips et al 2013, Arnold et al 2017]
c.342C>A	p.Asp114Glu	Abnormal protein retained in cell, suggesting abnormal trafficking & secretion [Kim et al 2011]
c.1085C>A	p.Ala362Glu
c.1033G>A	p.Asp345Asn	Identified in USA [Kim et al 2002, Erez et al 2010, Phillips et al 2013]. Abnormal protein retained in cell, suggesting abnormal trafficking & secretion [Kim et al 2011]
c.301G>A	p.Val101Met	Identified in USA [Kim et al 2002, Erez et al 2010, Phillips et al 2013]
c.806G>T	p.Cys269Phe	Identified in the Netherlands [Deinum et al 2004]
c.1667A>G	p.Tyr556Cys
c.617delA	p.Glu206GlyfsTer82
c.1374+24T>G		Identified in Italy [Bartoletti-Stella et al 2015, Donadio et al 2016]
c.1409C>T	p.Thr470Met

Reference Sequences

DNA Nucleotide Change

Predicted Protein Change

Comment [Reference]

c.-979T>C

Variant that contributes up to 52% of normal variation in DBH activity [Zabetian et al 2001]

c.339+2T>C

Common pathogenic variant that causes abnormal splicing [Kim et al 2002, Deinum et al 2004, Kim et al 2011, Phillips et al 2013, Arnold et al 2017]

c.342C>A

p.Asp114Glu

Abnormal protein retained in cell, suggesting abnormal trafficking & secretion [Kim et al 2011]

c.1085C>A

p.Ala362Glu

c.1033G>A

p.Asp345Asn

Identified in USA [Kim et al 2002, Erez et al 2010, Phillips et al 2013]. Abnormal protein retained in cell, suggesting abnormal trafficking & secretion [Kim et al 2011]

c.301G>A

p.Val101Met

Identified in USA [Kim et al 2002, Erez et al 2010, Phillips et al 2013]

c.806G>T

p.Cys269Phe

Identified in the Netherlands [Deinum et al 2004]

c.1667A>G

p.Tyr556Cys

c.617delA

p.Glu206GlyfsTer82

c.1374+24T>G

Identified in Italy [Bartoletti-Stella et al 2015, Donadio et al 2016]

c.1409C>T

p.Thr470Met

From: Dopamine Beta-Hydroxylase Deficiency

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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