Table 8.

Notable ATP8B1 Pathogenic Variants

Reference
Sequences		DNA Nucleotide
Change (Alias 1)		Predicted
Protein Change		Comment [Reference]
NM_005603​.5
NP_005594​.1 		c.625C>Ap.Pro209Thr2 variants commonly found in cis in eastern China; which of the 2 causes disease is unknown [Liu et al 2010].
NM_005603​.5 c.627+5G>T
(IVS6+5G>T)
NM_005603​.5
NP_005594​.1 		c.923G>Tp.Gly308ValFounder variant in Amish population [Bull et al 1998]
c.1660G>Ap.Asp554AsnVariant common in persons of Inuit ancestry from eastern Nunavut (Canadian Arctic), in both western & eastern Greenland, & in 1 kindred w/Athabascan & Norwegian ancestry [Klomp et al 2000, Klomp et al 2004]
c.1982T>Cp.Ile661ThrAt least 1 copy of this variant is found in most persons of European descent [Bull et al 1998, Tygstrup et al 1999, Klomp et al 2004].
c.1993G>Tp.Glu665TerVariant found in Dominican population [Klomp et al 2004]

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.

Variant designation that does not conform to current naming conventions

From: ATP8B1 Deficiency

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