Table 7.

Notable ATP7B Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_000053​.4 c.-436_-422delTGGCCGAGACCGCGG--Founder variant common in Sardinia [Loudianos et al 1999]
NM_000053​.4
NP_000044​.2 		c.1934T>Gp.Met645ArgFounder variants comprising 85% of pathogenic variants in persons of Ashkenazi Jewish ancestry [Shi et al 2017]
c.3191A>Cp.Glu1064Ala
c.3207C>Ap.His1069Gln
c.2123T>Cp.Leu708ProFounder variant common in Gran Canaria, Canary Islands, Spain [García-Villarreal et al 2000]
c.3649_3654
delGTTCTG		p.Val1217_
Leu1218del		Founder variant in persons of Druze ancestry [Kalinsky et al 1998]

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: Wilson Disease

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