Table 4. Selected DBH Allelic Variants

Class of Variant AlleleDNA Nucleotide Change
(Alias 1)
LocationProtein Amino Acid Change
(Alias 1)
Reference Sequences
Normal (19-bp insertion/deletion24.7 kb 5’ to the transcriptional start site--
521(11_15) 35’UTR--X63418 (gene segment)
c.486G>A
(444 g/a)
Exon 2 splice donor site--NM_000787​.3
NP_000778​.3
c.744+8C>T 4
(IVS3+8C>T)
Intron 3--
c.1562+415G>A 4
(IVS10+415G>A)
Intron 10--
c.-979C>T 5
(-1021C>T)
5' UTR--
(MspI polymorphism5Intron 9
Pathologicc.301G>A
(G259A)
Exon 1p.Val101Met
(V87M)
c.342C>A
(C300A)
Exon 2p.Asp114Glu
(D100E)
c.348+2T>C 6
(IVS1+2T>C)
Intron 1--
c.617delA
(c.575delA)
Exon 3p.Glu206Glyfs*82
c.806G>T
(G764T)
Exon 4p.Cys269Phe
(C255F)
c.1033G>A
(G991A)
Exon 6p.Asp345Asn
(D331N)
c.1085C>A
(C1043A)
Exon 6p.Ala362Glu
(A348E)
c.1667A>G
(A1625G)
Exon 11p.Tyr556Cys
(Y542C)

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. Variant designation that does not conform to current naming conventions

2. Cubells et al [2000]

3. GT dinucleotide repeat sequence that varies between 11 and 15 repeats in a population [Porter et al 1992]

4. Likely a normal variant on the same allele (in cis) as a pathologic mutation (see Pathologic allelic variants)

5. Normal allelic variants that correlate with the level of DBH activity (see Normal gene product)

6. An allele frequency of 0.001 has been reported for c. 348+2T>C in individuals of European American and African American heritage without autonomic dysfunction [Zabetian et al 2003].

From: Dopamine Beta-Hydroxylase Deficiency

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